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.L321L

c.961T>C

Surrounding Variants

2 papers

NM_001382567.1

p.L321M

c.961T>A

2 papers

NM_001382567.1

p.E320A

c.959A>C

1 paper

NM_001382567.1

p.E320V

c.959A>T

1 paper

NM_001382567.1

p.E320Q

c.958G>C

1 paper

NM_001382567.1

p.E322Q

c.964G>C

3 papers

NM_001382567.1

p.E322A

c.965A>C

2 papers

NM_001382567.1

p.E319E

c.957G>A

2 papers

NM_001382567.1

p.E319A

c.956A>C

2 papers

NM_001382567.1

p.E322E

c.966G>A

2 papers

NM_001382567.1

p.E322D

c.966G>C

2 papers

NM_001382567.1

p.E322D

c.966G>T

1 paper

NM_001382567.1

p.E319K

c.955G>A