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.A453V

c.1358C>T

Surrounding Variants

2 papers

NM_001382567.1

p.A453D

c.1358C>A

1 paper

NM_001382567.1

p.L454F

c.1360C>T

2 papers

NM_001382567.1

p.A452G

c.1355C>G

2 papers

NM_001382567.1

p.L454R

c.1361T>G

1 paper

NM_001382567.1

p.L454L

c.1362C>G

2 papers

NM_001382567.1

p.L454L

c.1362C>T

1 paper

NM_001382567.1

p.N455Y

c.1363A>T

4 papers

NM_001382567.1

p.I456T

c.1367T>C

3 papers

NM_001382567.1

p.L450L

c.1348C>T

2 papers

NM_001382567.1

p.S449S

c.1347A>G

2 papers

NM_001382567.1

p.S449S

c.1347A>T

2 papers

NM_001382567.1

p.D457N

c.1369G>A