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.E249D

c.747G>T

Surrounding Variants

3 papers

NM_001382567.1

p.E249D

c.747G>C

2 papers

NM_001382567.1

p.E249G

c.746A>G

2 papers

NM_001382567.1

p.E249K

c.745G>A

2 papers

NM_001382567.1

p.G250E

c.749G>A

2 papers

NM_001382567.1

p.G250V

c.749G>T

2 papers

NM_001382567.1

p.L248L

c.744G>A

6 papers

NM_001382567.1

p.L248S

c.743T>C

1 paper

NM_001382567.1

p.L251L

c.751T>C

31 papers

NM_001382567.1

p.L251S

c.752T>C

2 papers

NM_001382567.1

p.L248L

c.742T>C

1 paper

NM_001382567.1

p.L251F

c.753A>C

1 paper

NM_001382567.1

p.D247A

c.740A>C