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

3 papers

NM_001382567.1

p.F65L

c.195C>G

Surrounding Variants

2 papers

NM_001382567.1

p.F65L

c.195C>A

2 papers

NM_001382567.1

p.F65F

c.195C>T

3 papers

NM_001382567.1

p.E66K

c.196G>A

2 papers

NM_001382567.1

p.E66Q

c.196G>C

3 papers

NM_001382567.1

p.F65Y

c.194T>A

2 papers

NM_001382567.1

p.F65S

c.194T>C

2 papers

NM_001382567.1

p.F65C

c.194T>G

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

2 papers

NM_001382567.1

p.F65I

c.193T>A

2 papers

NM_001382567.1

p.F65L

c.193T>C