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

31 papers

NM_001382567.1

p.H72Q

c.216C>G

Surrounding Variants

31 papers

NM_001382567.1

p.H72Q

c.216C>A

2 papers

NM_001382567.1

p.H72P

c.215A>C

2 papers

NM_001382567.1

p.K73Q

c.217A>C

5 papers

NM_001382567.1

p.H72R

c.215A>G

2 papers

NM_001382567.1

p.K73E

c.217A>G

2 papers

NM_001382567.1

p.H72L

c.215A>T

2 papers

NM_001382567.1

p.K73T

c.218A>C

3 papers

NM_001382567.1

p.K73R

c.218A>G

2 papers

NM_001382567.1

p.K73I

c.218A>T

2 papers

NM_001382567.1

p.H72N

c.214C>A

2 papers

NM_001382567.1

p.H72D

c.214C>G

2 papers

NM_001382567.1

p.H72Y

c.214C>T