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

1 paper

NM_001382567.1

p.S58R

c.174T>A

Surrounding Variants

2 papers

NM_001382567.1

p.S58S

c.174T>C

2 papers

NM_001382567.1

p.E59K

c.175G>A

1 paper

NM_001382567.1

p.H57Q

c.171C>G

1 paper

NM_001382567.1

p.S58del1

c.172_173delAGT

2 papers

NM_001382567.1

p.E59E

c.177G>A

3 papers

NM_001382567.1

p.H57Y

c.169C>T

2 papers

NM_001382567.1

p.E61K

c.181G>A

3 papers

NM_001382567.1

p.C56S

c.167G>C

4 papers

NM_001382567.1

p.E61G

c.182A>G

4 papers

NM_001382567.1

p.C56S

c.166T>A

1 paper

NM_001382567.1

p.C56G

c.166T>G

3 papers

NM_001382567.1

p.E61E

c.183G>A