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

11 papers

NM_001382567.1

p.L92V

c.274C>G

Surrounding Variants

2 papers

NM_001382567.1

p.L92M

c.274C>A

2 papers

NM_001382567.1

p.F91L

c.273C>A

2 papers

NM_001382567.1

p.F91L

c.273C>G

2 papers

NM_001382567.1

p.L92Q

c.275T>A

4 papers

NM_001382567.1

p.L92P

c.275T>C

2 papers

NM_001382567.1

p.L92R

c.275T>G

2 papers

NM_001382567.1

p.F91Y

c.272T>A

2 papers

NM_001382567.1

p.F91S

c.272T>C

2 papers

NM_001382567.1

p.F91C

c.272T>G

2 papers

NM_001382567.1

p.R93G

c.277A>G

7 papers

NM_001382567.1

p.R93W

c.277A>T

2 papers

NM_001382567.1

p.F91I

c.271T>A