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.K285E

c.853A>G

Surrounding Variants

2 papers

NM_001382567.1

p.K284R

c.851A>G

1 paper

NM_001382567.1

p.K284E

c.850A>G

2 papers

NM_001382567.1

p.E283E

c.849A>G

2 papers

NM_001382567.1

p.L286P

c.857T>C

1 paper

NM_001382567.1

p.R287_E289del3

c.859_866del9

2 papers

NM_001382567.1

p.L286L

c.858G>A

2 papers

NM_001382567.1

p.R287C

c.859C>T

2 papers

NM_001382567.1

p.E283K

c.847G>A

2 papers

NM_001382567.1

p.R287H

c.860G>A

2 papers

NM_001382567.1

p.L282L

c.846G>C

2 papers

NM_001382567.1

p.L282L

c.846G>T

1 paper

NM_001382567.1

p.E283del1

c.847_848delGAA