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.A293T

c.877G>A

Surrounding Variants

1 paper

NM_001382567.1

p.A293S

c.877G>T

1 paper

NM_001382567.1

p.A293G

c.878C>G

2 papers

NM_001382567.1

p.L292P

c.875T>C

1 paper

NM_001382567.1

p.Q295del1

c.883_884delCAG

2 papers

NM_001382567.1

p.L292F

c.874C>T

1 paper

NM_001382567.1

p.K294R

c.881A>G

2 papers

NM_001382567.1

p.N291T

c.872A>C

2 papers

NM_001382567.1

p.N291S

c.872A>G

2 papers

NM_001382567.1

p.K294K

c.882G>A

2 papers

NM_001382567.1

p.N291D

c.871A>G

2 papers

NM_001382567.1

p.I290I

c.870C>T

1 paper

NM_001382567.1

p.E296del1

c.886_887delGAA