Varaico: Literature-Extracted Genetic Variants

STIM1

472 papers

RefSeq Summary

This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several ge...

Pfam Domains

EF-hand_STIM1aa 1–51UCSCStromal interaction molecule 1-like, EF-hand

EF-hand_STIM1aa 46–125UCSCStromal interaction molecule 1-like, EF-hand

SAM_2aa 55–123UCSCSAM domain (Sterile alpha motif)

SOARaa 267–367UCSCSTIM1 Orai1-activating region

Gene Aliases

HGNC Name

stromal interaction molecule 1

HGNC Alias Symbols

GOK; D11S4896E

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001382567.1

p.C49W

c.147C>G

Surrounding Variants

3 papers

NM_001382567.1

p.R50*

c.148C>T

3 papers

NM_001382567.1

p.C49S

c.146G>C

3 papers

NM_001382567.1

p.R50Q

c.149G>A

3 papers

NM_001382567.1

p.C49S

c.145T>A

2 papers

NM_001382567.1

p.F48L

c.144T>A

2 papers

NM_001382567.1

p.F48L

c.144T>G

1 paper

NM_001382567.1

p.F48I

c.142T>A

3 papers

NM_001382567.1

p.F48L

c.142T>C

2 papers

NM_001382567.1

p.F48_R50del3

c.142_149del9

1 paper

NM_001382567.1

p.E47G

c.140A>G

2 papers

NM_001382567.1

p.D52N

c.154G>A

2 papers

NM_001382567.1

p.D52H

c.154G>C