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.K315N

c.945A>T

Surrounding Variants

2 papers

NM_001382567.1

p.K315N

c.945A>C

2 papers

NM_001382567.1

p.K315R

c.944A>G

1 paper

NM_001382567.1

p.Y316D

c.946T>G

2 papers

NM_001382567.1

p.K315Q

c.943A>C

1 paper

NM_001382567.1

p.Y316S

c.947A>C

5 papers

NM_001382567.1

p.Y316F

c.947A>T

2 papers

NM_001382567.1

p.K315_Y316del2

c.943_947del6

2 papers

NM_001382567.1

p.Y316Y

c.948T>C

1 paper

NM_001382567.1

p.Q314_K315ins1

c.942_943insAGA

1 paper

NM_001382567.1

p.Q314K

c.940C>A

2 papers

NM_001382567.1

p.K315delFs

c.945delA

2 papers

NM_001382567.1

p.E320del1

c.958_960delGAG