RIT2

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			17 clinvar			17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	0	0	18

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002930.4	RefSeq	NP_002921.1	5	MANE Select
ENST00000326695.10	Ensembl	ENSP00000321805.4	5	MANE Select
NM_001272077.2	RefSeq	NP_001259006.1	5	Standard
ENST00000589109.5	Ensembl	ENSP00000467217.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signal Transduction
Signalling to p38 via RIT and RIN
Signalling to ERKs
Signaling by NTRK1 (TRKA)
Signaling by NTRKs

Biological Process

MAPK cascade
adenylate cyclase-activating G protein-coupled receptor signaling pathway
small GTPase mediated signal transduction
Ras protein signal transduction
chemical synaptic transmission

Molecular Function

chromatin binding
GTPase activity
protein binding
calmodulin binding
GTP binding

Cellular Component

nucleus
cytoplasm
plasma membrane
neuron projection
cell body

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000326695
Coding exons: 5
Length: 372466
Individuals with no LoFs: 125717
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 125744
p: 0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.890	95	123	0.774	0.00000644	1441
Missense (PolyPhen)		32	58.793	0.54428		663
Synonymous	0.633	37	42.2	0.876	0.00000208	388
Loss of Function	0.950	6	9.09	0.660	3.81e-7	125

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000062	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0.00032	0.00032	rare
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.000033	0.000033	rare
Other	0.00066	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator. {ECO:0000250|UniProtKB:P70425}.;

Recessive Scores

pRec: 0.287

Intolerance Scores

LoFtool: 0.685
RVIS EVS: 0.19
RVIS percentile EVS: 66.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0282

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium