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.Y231F

c.692A>T

Surrounding Variants

3 papers

NM_001382567.1

p.Y231C

c.692A>G

1 paper

NM_001382567.1

p.I232fs

c.694_695fs

1 paper

NM_001382567.1

p.A230ins6

c.689_690ins18

2 papers

NM_001382567.1

p.I232M

c.696C>G

2 papers

NM_001382567.1

p.A230P

c.688G>C

2 papers

NM_001382567.1

p.Q233E

c.697C>G

2 papers

NM_001382567.1

p.Q233*

c.697C>T

1 paper

NM_001382567.1

p.F229L

c.687T>A

1 paper

NM_001382567.1

p.F229L

c.687T>G

1 paper

NM_001382567.1

p.Q233L

c.698A>T

1 paper

NM_001382567.1

p.N234_K242del0

c.702_725del24

1 paper

NM_001382567.1

p.F229C

c.686T>G