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.V83L

c.247G>C

Surrounding Variants

2 papers

NM_001382567.1

p.V83M

c.247G>A

3 papers

NM_001382567.1

p.V83L

c.247G>T

3 papers

NM_001382567.1

p.V83E

c.248T>A

2 papers

NM_001382567.1

p.D82E

c.246T>A

3 papers

NM_001382567.1

p.V83A

c.248T>C

2 papers

NM_001382567.1

p.D82D

c.246T>C

2 papers

NM_001382567.1

p.D82E

c.246T>G

2 papers

NM_001382567.1

p.V83G

c.248T>G

2 papers

NM_001382567.1

p.D82A

c.245A>C

2 papers

NM_001382567.1

p.D82G

c.245A>G

2 papers

NM_001382567.1

p.D82V

c.245A>T

3 papers

NM_001382567.1

p.D84N

c.250G>A