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.N70D

c.208A>G

Surrounding Variants

2 papers

NM_001382567.1

p.N70H

c.208A>C

2 papers

NM_001382567.1

p.N70Y

c.208A>T

2 papers

NM_001382567.1

p.N70T

c.209A>C

2 papers

NM_001382567.1

p.N70S

c.209A>G

2 papers

NM_001382567.1

p.N70I

c.209A>T

2 papers

NM_001382567.1

p.N70K

c.210C>A

2 papers

NM_001382567.1

p.N70K

c.210C>G

2 papers

NM_001382567.1

p.N70N

c.210C>T

3 papers

NM_001382567.1

p.R69H

c.206G>A

2 papers

NM_001382567.1

p.R69P

c.206G>C

3 papers

NM_001382567.1

p.R69L

c.206G>T

2 papers

NM_001382567.1

p.I71L

c.211A>C