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.V129L

c.385G>T

Surrounding Variants

2 papers

NM_001382567.1

p.V129L

c.385G>C

2 papers

NM_001382567.1

p.E128V

c.383A>T

2 papers

NM_001382567.1

p.E128Q

c.382G>C

4 papers

NM_001382567.1

p.E128fs

c.382_383fs

1 paper

NM_001382567.1

p.S127_E128insFs

c.381_382insAC

2 papers

NM_001382567.1

p.S127S

c.381A>G

6 papers

NM_001382567.1

p.S127insFs

c.380_381insA

2 papers

NM_001382567.1

p.S126S

c.378A>T

2 papers

NM_001382567.1

p.S126T

c.376T>A

1 paper

NM_001382567.1

p.S126P

c.376T>C

2 papers

NM_001382567.1

p.S126A

c.376T>G

2 papers

NM_001382567.1

p.K125K

c.375G>A