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.E66D

c.198G>T

Surrounding Variants

2 papers

NM_001382567.1

p.E66E

c.198G>A

2 papers

NM_001382567.1

p.E66D

c.198G>C

2 papers

NM_001382567.1

p.E66A

c.197A>C

2 papers

NM_001382567.1

p.E66G

c.197A>G

2 papers

NM_001382567.1

p.E66V

c.197A>T

3 papers

NM_001382567.1

p.A67T

c.199G>A

2 papers

NM_001382567.1

p.A67P

c.199G>C

2 papers

NM_001382567.1

p.A67S

c.199G>T

2 papers

NM_001382567.1

p.A67E

c.200C>A

2 papers

NM_001382567.1

p.A67G

c.200C>G

2 papers

NM_001382567.1

p.A67V

c.200C>T

3 papers

NM_001382567.1

p.E66K

c.196G>A