CRACR2B

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			3 clinvar			3
missense			50 clinvar	1 clinvar		51
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	1	0	55

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 71 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001286606.2	RefSeq	NP_001273535.1	9	MANE Select
ENST00000525077.2	Ensembl	ENSP00000435299.1	9	MANE Select
NM_173584.4	RefSeq	NP_775855.3	8	Standard
ENST00000450448.5	Ensembl	ENSP00000409256.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vitamin D Receptor Pathway

Biological Process

store-operated calcium entry
cellular protein localization
regulation of store-operated calcium entry

Molecular Function

calcium ion binding
protein binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000450448
Coding exons: 8
Length: 5848
Individuals with no LoFs: 124594
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 124645
p: 0.000205

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.11	201	161	1.25	0.00000848	1811
Missense (PolyPhen)		52	39.978	1.3007		485
Synonymous	-1.69	90	71.8	1.25	0.00000391	606
Loss of Function	-0.457	15	13.2	1.14	5.64e-7	162

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.000035	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00034	0.00034	rare
South Asian	0.00037	0.00036	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Plays a role in store-operated Ca(2+) entry (SOCE). {ECO:0000269|PubMed:20418871}.;