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

1–12 of 1778 variants

77 papers

NM_001382567.1

p.R304W

c.910C>T

53 papers

NM_001382567.1

p.D76A

c.227A>C

49 papers

NM_001382567.1

p.D84G

c.251A>G

46 papers

NM_001382567.1

p.R429C

c.1285C>T

38 papers

NM_001382567.1

p.I115F

c.343A>T

31 papers

NM_001382567.1

p.H72Q

c.216C>A

31 papers

NM_001382567.1

p.H72Q

c.216C>G

31 papers

NM_001382567.1

p.L251S

c.752T>C

30 papers

NM_001382567.1

p.H109R

c.326A>G

29 papers

NM_001382567.1

p.H109N

c.325C>A

25 papers

NM_001382567.1

p.L96V

c.286C>G

23 papers

NM_001382567.1

p.F108I

c.322T>A