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

4 papers

NM_001382567.1

p.C437S

c.1310G>C

Surrounding Variants

1 paper

NM_001382567.1

p.C437Y

c.1310G>A

4 papers

NM_001382567.1

p.C437S

c.1309T>A

3 papers

NM_001382567.1

p.C437G

c.1309T>G

2 papers

NM_001382567.1

p.L436L

c.1308C>G

2 papers

NM_001382567.1

p.G438D

c.1313G>A

3 papers

NM_001382567.1

p.G438A

c.1313G>C

2 papers

NM_001382567.1

p.G438G

c.1314C>A

1 paper

NM_001382567.1

p.L436_C437insG

c.1306_1310ins3

2 papers

NM_001382567.1

p.I435I

c.1305C>T

2 papers

NM_001382567.1

p.F439F

c.1317C>T

2 papers

NM_001382567.1

p.Q440*

c.1318C>T

2 papers

NM_001382567.1

p.E434E

c.1302G>A