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.S116N

c.347G>A

Surrounding Variants

1 paper

NM_001382567.1

p.S116G

c.346A>G

1 paper

NM_001382567.1

p.S116R

c.348C>G

2 papers

NM_001382567.1

p.S116S

c.348C>T

2 papers

NM_001382567.1

p.I115I

c.345C>A

2 papers

NM_001382567.1

p.I115I

c.345C>T

2 papers

NM_001382567.1

p.V117M

c.349G>A

2 papers

NM_001382567.1

p.V117L

c.349G>C

2 papers

NM_001382567.1

p.V117L

c.349G>T

2 papers

NM_001382567.1

p.V117E

c.350T>A

38 papers

NM_001382567.1

p.I115F

c.343A>T

1 paper

NM_001382567.1

p.L114L

c.342C>T

1 paper

NM_001382567.1

p.E118G

c.353A>G