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

1 paper

NM_001382567.1

p.L261F

c.781C>T

Surrounding Variants

2 papers

NM_001382567.1

p.L261I

c.781C>A

1 paper

NM_001382567.1

p.L261V

c.781C>G

1 paper

NM_001382567.1

p.L261L

c.783T>C

1 paper

NM_001382567.1

p.Q262K

c.784C>A

1 paper

NM_001382567.1

p.D260N

c.778G>A

2 papers

NM_001382567.1

p.H259R

c.776A>G

2 papers

NM_001382567.1

p.H259Y

c.775C>T

2 papers

NM_001382567.1

p.E263K

c.787G>A

1 paper

NM_001382567.1

p.E263Q

c.787G>C

1 paper

NM_001382567.1

p.E263A

c.788A>C

2 papers

NM_001382567.1

p.L258L

c.774G>T

1 paper

NM_001382567.1

p.S257R

c.771T>A