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.A79D

c.236C>A

Surrounding Variants

2 papers

NM_001382567.1

p.A79G

c.236C>G

2 papers

NM_001382567.1

p.A79V

c.236C>T

3 papers

NM_001382567.1

p.A79T

c.235G>A

2 papers

NM_001382567.1

p.A79P

c.235G>C

2 papers

NM_001382567.1

p.A79S

c.235G>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

3 papers

NM_001382567.1

p.D78E

c.234T>A

2 papers

NM_001382567.1

p.D78D

c.234T>C

3 papers

NM_001382567.1

p.D78E

c.234T>G

21 papers

NM_001382567.1

p.N80T

c.239A>C