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.E255V

c.764A>T

Surrounding Variants

1 paper

NM_001382567.1

p.E255A

c.764A>C

3 papers

NM_001382567.1

p.E255K

c.763G>A

2 papers

NM_001382567.1

p.E255E

c.765G>A

2 papers

NM_001382567.1

p.Q256R

c.767A>G

2 papers

NM_001382567.1

p.R253R

c.759A>G

2 papers

NM_001382567.1

p.R253Q

c.758G>A

1 paper

NM_001382567.1

p.R253*

c.757C>T

1 paper

NM_001382567.1

p.S257R

c.771T>A

2 papers

NM_001382567.1

p.H252R

c.755A>G

2 papers

NM_001382567.1

p.H252Y

c.754C>T

2 papers

NM_001382567.1

p.L258L

c.774G>T

1 paper

NM_001382567.1

p.L251F

c.753A>C