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.S219S

c.657T>C

Surrounding Variants

2 papers

NM_001382567.1

p.I220V

c.658A>G

2 papers

NM_001382567.1

p.S219C

c.656C>G

2 papers

NM_001382567.1

p.I220N

c.659T>A

2 papers

NM_001382567.1

p.I220I

c.660C>A

2 papers

NM_001382567.1

p.I220I

c.660C>T

2 papers

NM_001382567.1

p.V221I

c.661G>A

1 paper

NM_001382567.1

p.V218M

c.652G>A

2 papers

NM_001382567.1

p.V217V

c.651G>T

1 paper

NM_001382567.1

p.V221V

c.663T>C

2 papers

NM_001382567.1

p.I222T

c.665T>C

1 paper

NM_001382567.1

p.L216L

c.648G>A

2 papers

NM_001382567.1

p.L216L

c.648G>T