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

4 papers

NM_001382567.1

p.N80K

c.240T>A

Surrounding Variants

2 papers

NM_001382567.1

p.N80N

c.240T>C

4 papers

NM_001382567.1

p.N80K

c.240T>G

21 papers

NM_001382567.1

p.N80T

c.239A>C

3 papers

NM_001382567.1

p.N80S

c.239A>G

2 papers

NM_001382567.1

p.N80I

c.239A>T

2 papers

NM_001382567.1

p.G81S

c.241G>A

2 papers

NM_001382567.1

p.G81R

c.241G>C

2 papers

NM_001382567.1

p.G81C

c.241G>T

2 papers

NM_001382567.1

p.N80H

c.238A>C

2 papers

NM_001382567.1

p.N80D

c.238A>G

2 papers

NM_001382567.1

p.N80Y

c.238A>T

20 papers

NM_001382567.1

p.G81D

c.242G>A