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.R429L

c.1286G>T

Surrounding Variants

2 papers

NM_001382567.1

p.R429H

c.1286G>A

1 paper

NM_001382567.1

p.R429P

c.1286G>C

2 papers

NM_001382567.1

p.R429R

c.1287C>G

46 papers

NM_001382567.1

p.R429C

c.1285C>T

1 paper

NM_001382567.1

p.R429R

c.1287C>T

2 papers

NM_001382567.1

p.H428R

c.1283A>G

3 papers

NM_001382567.1

p.H428Y

c.1282C>T

2 papers

NM_001382567.1

p.Q431K

c.1291C>A

1 paper

NM_001382567.1

p.L427P

c.1280T>C

2 papers

NM_001382567.1

p.R426R

c.1278C>T

2 papers

NM_001382567.1

p.R426H

c.1277G>A

14 papers

NM_001382567.1

p.R426L

c.1277G>T