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

13 papers

NM_001382567.1

p.F108L

c.324C>G

Surrounding Variants

13 papers

NM_001382567.1

p.F108L

c.324C>A

2 papers

NM_001382567.1

p.F108F

c.324C>T

29 papers

NM_001382567.1

p.H109N

c.325C>A

1 paper

NM_001382567.1

p.H109D

c.325C>G

5 papers

NM_001382567.1

p.H109Y

c.325C>T

30 papers

NM_001382567.1

p.H109R

c.326A>G

23 papers

NM_001382567.1

p.F108I

c.322T>A

13 papers

NM_001382567.1

p.F108L

c.322T>C

2 papers

NM_001382567.1

p.F108V

c.322T>G

1 paper

NM_001382567.1

p.H109H

c.327T>C

2 papers

NM_001382567.1

p.T107I

c.320C>T

2 papers

NM_001382567.1

p.T107A

c.319A>G