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.R235H

c.704G>A

Surrounding Variants

2 papers

NM_001382567.1

p.R235S

c.703C>A

2 papers

NM_001382567.1

p.R235C

c.703C>T

2 papers

NM_001382567.1

p.N234N

c.702C>T

2 papers

NM_001382567.1

p.Y236Y

c.708C>T

2 papers

NM_001382567.1

p.Q233Q

c.699G>A

2 papers

NM_001382567.1

p.S237P

c.709T>C

1 paper

NM_001382567.1

p.Q233L

c.698A>T

1 paper

NM_001382567.1

p.N234_K242del0

c.702_725del24

1 paper

NM_001382567.1

p.S237C

c.710C>G

2 papers

NM_001382567.1

p.Q233E

c.697C>G

2 papers

NM_001382567.1

p.Q233*

c.697C>T

2 papers

NM_001382567.1

p.S237S

c.711C>T