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.Y492H

c.1474T>C

Surrounding Variants

2 papers

NM_001382567.1

p.Y492C

c.1475A>G

2 papers

NM_001382567.1

p.Y492F

c.1475A>T

2 papers

NM_001382567.1

p.Q491L

c.1472A>T

2 papers

NM_001382567.1

p.Q491K

c.1471C>A

2 papers

NM_001382567.1

p.M490T

c.1469T>C

3 papers

NM_001382567.1

p.S489F

c.1466C>T

2 papers

NM_001382567.1

p.P487P

c.1461C>G

2 papers

NM_001382567.1

p.P487P

c.1461C>T

2 papers

NM_001382567.1

p.P487L

c.1460C>T

2 papers

NM_001382567.1

p.S486A

c.1456T>G

2 papers

NM_001382567.1

p.V485A

c.1454T>C

2 papers

NM_001382567.1

p.I484V

c.1450A>G