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

3 papers

NM_001382567.1

p.D76N

c.226G>A

Surrounding Variants

4 papers

NM_001382567.1

p.D76H

c.226G>C

2 papers

NM_001382567.1

p.D76Y

c.226G>T

53 papers

NM_001382567.1

p.D76A

c.227A>C

5 papers

NM_001382567.1

p.D76G

c.227A>G

4 papers

NM_001382567.1

p.D76V

c.227A>T

2 papers

NM_001382567.1

p.M75I

c.225G>A

2 papers

NM_001382567.1

p.M75I

c.225G>C

2 papers

NM_001382567.1

p.M75I

c.225G>T

2 papers

NM_001382567.1

p.D76E

c.228C>A

2 papers

NM_001382567.1

p.D76E

c.228C>G

2 papers

NM_001382567.1

p.D76D

c.228C>T

2 papers

NM_001382567.1

p.M75K

c.224T>A