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

5 papers

NM_001382567.1

p.D112A

c.335A>C

Surrounding Variants

2 papers

NM_001382567.1

p.D112N

c.334G>A

3 papers

NM_001382567.1

p.D112Y

c.334G>T

2 papers

NM_001382567.1

p.E111E

c.333G>A

2 papers

NM_001382567.1

p.E111G

c.332A>G

2 papers

NM_001382567.1

p.K113K

c.339G>A

2 papers

NM_001382567.1

p.K113N

c.339G>C

2 papers

NM_001382567.1

p.K113N

c.339G>T

3 papers

NM_001382567.1

p.L114F

c.340C>T

3 papers

NM_001382567.1

p.G110D

c.329G>A

2 papers

NM_001382567.1

p.L114H

c.341T>A

1 paper

NM_001382567.1

p.L114P

c.341T>C

1 paper

NM_001382567.1

p.L114L

c.342C>T