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

2 papers

NM_001382567.1

p.M480I

c.1440G>T

Surrounding Variants

2 papers

NM_001382567.1

p.M480I

c.1440G>A

2 papers

NM_001382567.1

p.M480I

c.1440G>C

2 papers

NM_001382567.1

p.D481N

c.1441G>A

2 papers

NM_001382567.1

p.M480T

c.1439T>C

2 papers

NM_001382567.1

p.D481A

c.1442A>C

2 papers

NM_001382567.1

p.M480V

c.1438A>G

2 papers

NM_001382567.1

p.D479A

c.1436A>C

2 papers

NM_001382567.1

p.E482A

c.1445A>C

5 papers

NM_001382567.1

p.I484insFs

c.1450_1451insGA

2 papers

NM_001382567.1

p.D478E

c.1434T>A

2 papers

NM_001382567.1

p.D478E

c.1434T>G

2 papers

NM_001382567.1

p.D478A

c.1433A>C