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

1 paper

NM_001382567.1

p.R304G

c.910C>G

Surrounding Variants

77 papers

NM_001382567.1

p.R304W

c.910C>T

22 papers

NM_001382567.1

p.R304Q

c.911G>A

2 papers

NM_001382567.1

p.L303L

c.909G>A

1 paper

NM_001382567.1

p.R304P

c.911G>C

1 paper

NM_001382567.1

p.R304L

c.911G>T

1 paper

NM_001382567.1

p.R304R

c.912G>A

2 papers

NM_001382567.1

p.R304R

c.912G>C

4 papers

NM_001382567.1

p.L303P

c.908T>C

2 papers

NM_001382567.1

p.E302E

c.906G>A

2 papers

NM_001382567.1

p.E302G

c.905A>G

2 papers

NM_001382567.1

p.E302V

c.905A>T

1 paper

NM_001382567.1

p.G306del1

c.916_917delGGT