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.D476D

c.1428C>T

Surrounding Variants

1 paper

NM_001382567.1

p.D476A

c.1427A>C

2 papers

NM_001382567.1

p.V477M

c.1429G>A

2 papers

NM_001382567.1

p.D476N

c.1426G>A

2 papers

NM_001382567.1

p.V477G

c.1430T>G

2 papers

NM_001382567.1

p.D475D

c.1425C>T

1 paper

NM_001382567.1

p.D475A

c.1424A>C

2 papers

NM_001382567.1

p.D478Y

c.1432G>T

2 papers

NM_001382567.1

p.D478A

c.1433A>C

1 paper

NM_001382567.1

p.D478V

c.1433A>T

2 papers

NM_001382567.1

p.D475N

c.1423G>A

2 papers

NM_001382567.1

p.D478E

c.1434T>A

2 papers

NM_001382567.1

p.D478E

c.1434T>G