GARIN2

golgi associated RAB2 interactor family member 2

Basic information

Region (hg38): 14:67189393-67228550

Previous symbols: [ "C14orf54", "FAM71D" ]

Links

ENSG00000172717NCBI:161142OMIM:619898HGNC:20101Uniprot:Q8N9W8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GARIN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GARIN2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
32
clinvar
1
clinvar
33
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 32 1 0

Variants in GARIN2

This is a list of pathogenic ClinVar variants found in the GARIN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
14-67198191-G-A not specified Uncertain significance (Apr 08, 2024)3280713
14-67198199-A-G not specified Uncertain significance (May 20, 2024)3280714
14-67198209-T-A not specified Uncertain significance (Aug 10, 2021)3098365
14-67198274-A-G not specified Uncertain significance (Mar 07, 2023)2495431
14-67198294-C-T not specified Uncertain significance (Jul 19, 2023)2603622
14-67198297-A-G not specified Uncertain significance (Oct 02, 2023)3098356
14-67198303-G-A not specified Uncertain significance (Oct 06, 2022)3098357
14-67203098-A-G not specified Uncertain significance (Aug 26, 2022)3098358
14-67203106-G-A not specified Uncertain significance (Sep 12, 2023)2622912
14-67203113-C-T not specified Uncertain significance (Jan 09, 2024)3098359
14-67203119-A-T not specified Uncertain significance (Aug 10, 2021)3098360
14-67203124-C-A not specified Uncertain significance (Jan 16, 2024)3098361
14-67203131-G-A not specified Uncertain significance (Dec 16, 2023)3098362
14-67203167-G-C not specified Uncertain significance (Aug 08, 2022)3098363
14-67203173-C-G not specified Uncertain significance (Apr 18, 2023)2538351
14-67204572-A-G not specified Uncertain significance (Jun 11, 2021)3098364
14-67204614-G-T not specified Uncertain significance (Jul 05, 2023)2609397
14-67204731-C-T not specified Uncertain significance (Jun 29, 2023)2597312
14-67204746-T-C not specified Uncertain significance (Apr 04, 2024)3280715
14-67204754-A-C not specified Uncertain significance (Dec 19, 2022)3098366
14-67204794-C-T not specified Likely benign (Nov 22, 2022)3098367
14-67204803-C-T not specified Uncertain significance (Jun 11, 2021)3098368
14-67204824-C-G not specified Uncertain significance (Aug 30, 2021)3098369
14-67204827-C-T not specified Uncertain significance (Dec 28, 2022)3098370
14-67204868-A-T not specified Uncertain significance (Oct 27, 2021)3098371

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.774
rvis_EVS
-0.16
rvis_percentile_EVS
42.06

Haploinsufficiency Scores

pHI
0.224
hipred
hipred_score
ghis
0.426

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam71d
Phenotype