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.R311Q

c.932G>A

Surrounding Variants

2 papers

NM_001382567.1

p.R311W

c.931C>T

2 papers

NM_001382567.1

p.S312S

c.936C>T

1 paper

NM_001382567.1

p.E310K

c.928G>A

2 papers

NM_001382567.1

p.E310*

c.928G>T

3 papers

NM_001382567.1

p.R313C

c.937C>T

2 papers

NM_001382567.1

p.N309K

c.927T>A

2 papers

NM_001382567.1

p.N309K

c.927T>G

2 papers

NM_001382567.1

p.N309S

c.926A>G

2 papers

NM_001382567.1

p.R313H

c.938G>A

2 papers

NM_001382567.1

p.N309H

c.925A>C

1 paper

NM_001382567.1

p.Q314K

c.940C>A

2 papers

NM_001382567.1

p.K315delFs

c.945delA