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

1 paper

NM_001382567.1

p.C227C

c.681C>T

Surrounding Variants

1 paper

NM_001382567.1

p.C227*

c.681C>A

8 papers

NM_001382567.1

p.C227W

c.681C>G

1 paper

NM_001382567.1

p.C227Y

c.680G>A

1 paper

NM_001382567.1

p.C227S

c.680G>C

1 paper

NM_001382567.1

p.C227S

c.679T>A

1 paper

NM_001382567.1

p.C227delFs

c.679delT

2 papers

NM_001382567.1

p.F229delFs

c.685delT

1 paper

NM_001382567.1

p.F229L

c.685T>C

2 papers

NM_001382567.1

p.F229fs

c.685_686fs

2 papers

NM_001382567.1

p.G226S

c.676G>A

1 paper

NM_001382567.1

p.G226C

c.676G>T

1 paper

NM_001382567.1

p.F229C

c.686T>G