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.E418K

c.1252G>A

Surrounding Variants

2 papers

NM_001382567.1

p.E418*

c.1252G>T

2 papers

NM_001382567.1

p.S417S

c.1251C>T

2 papers

NM_001382567.1

p.S417N

c.1250G>A

2 papers

NM_001382567.1

p.E418E

c.1254G>A

1 paper

NM_001382567.1

p.S417G

c.1249A>G

2 papers

NM_001382567.1

p.V419M

c.1255G>A

3 papers

NM_001382567.1

p.V419L

c.1255G>C

3 papers

NM_001382567.1

p.V419L

c.1255G>T

5 papers

NM_001382567.1

p.V419A

c.1256T>C

1 paper

NM_001382567.1

p.V419G

c.1256T>G

1 paper

NM_001382567.1

p.T420K

c.1259C>A

2 papers

NM_001382567.1

p.Q414H

c.1242A>C