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.D78N

c.232G>A

Surrounding Variants

2 papers

NM_001382567.1

p.D78H

c.232G>C

2 papers

NM_001382567.1

p.D78Y

c.232G>T

3 papers

NM_001382567.1

p.D78A

c.233A>C

3 papers

NM_001382567.1

p.D78G

c.233A>G

2 papers

NM_001382567.1

p.D78V

c.233A>T

2 papers

NM_001382567.1

p.D77E

c.231T>A

2 papers

NM_001382567.1

p.D77E

c.231T>G

6 papers

NM_001382567.1

p.D77A

c.230A>C

2 papers

NM_001382567.1

p.D77G

c.230A>G

2 papers

NM_001382567.1

p.D77V

c.230A>T

3 papers

NM_001382567.1

p.D78E

c.234T>A

2 papers

NM_001382567.1

p.D78D

c.234T>C