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.V85G

c.254T>G

Surrounding Variants

2 papers

NM_001382567.1

p.V85E

c.254T>A

2 papers

NM_001382567.1

p.V85A

c.254T>C

2 papers

NM_001382567.1

p.V85M

c.253G>A

1 paper

NM_001382567.1

p.V85V

c.255G>A

2 papers

NM_001382567.1

p.V85L

c.253G>C

2 papers

NM_001382567.1

p.V85L

c.253G>T

3 papers

NM_001382567.1

p.E86K

c.256G>A

2 papers

NM_001382567.1

p.E86Q

c.256G>C

19 papers

NM_001382567.1

p.D84E

c.252T>A

19 papers

NM_001382567.1

p.D84E

c.252T>G

2 papers

NM_001382567.1

p.D84A

c.251A>C

2 papers

NM_001382567.1

p.E86A

c.257A>C