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

1 paper

NM_001382567.1

p.T274delFs

c.821delC

Surrounding Variants

3 papers

NM_001382567.1

p.R273H

c.818G>A

2 papers

NM_001382567.1

p.R273C

c.817C>T

2 papers

NM_001382567.1

p.R273_V277delFs

c.818_831del14

1 paper

NM_001382567.1

p.H272Y

c.814C>T

1 paper

NM_001382567.1

p.E276Q

c.826G>C

2 papers

NM_001382567.1

p.E271E

c.813G>A

2 papers

NM_001382567.1

p.E271D

c.813G>C

2 papers

NM_001382567.1

p.E271D

c.813G>T

2 papers

NM_001382567.1

p.E276D

c.828G>C

2 papers

NM_001382567.1

p.E276D

c.828G>T

2 papers

NM_001382567.1

p.E270E

c.810G>A

1 paper

NM_001382567.1

p.E270A

c.809A>C