Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.Q326*

STAT2

360 papers

RefSeq Summary

The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and the...

Pfam Domains

STAT_intaa 2–123UCSCSTAT protein, protein interaction domain
STAT_alphaaa 146–308UCSCSTAT transcription factor, coiled-coil domain
STAT_bindaa 320–456UCSCSTAT protein, DNA binding domain
STAT_linkeraa 479–557UCSCSignal transducer and activator of transcription, linker domain
SH2aa 577–648UCSCSH2 domain
STAT2_Caa 783–838UCSCSignal transducer and activator of transcription 2 C terminal

Gene Aliases

HGNC Name

signal transducer and activator of transcription 2

HGNC Alias Symbol

STAT113

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005419.4
p.Q326*
c.976C>T
Surrounding Variants
1 paper
NM_005419.4
p.P328S
c.982C>T
6 papers
NM_005419.4
p.R330*
c.988C>T
3 papers
NM_005419.4
p.R330Q
c.989G>A
1 paper
NM_005419.4
p.E319G
c.956A>G
1 paper
NM_005419.4
p.E319K
c.955G>A
1 paper
NM_005419.4
p.R314G
c.940A>G
1 paper
NM_005419.4
p.V342I
c.1024G>A
1 paper
NM_198332.2
p.T340T
c.1020A>G
1 paper
NM_005419.4
p.L311V
c.931C>G
1 paper
NM_005419.4
p.L308L
c.922C>T
1 paper
NM_005419.4
p.A302T
c.904G>A
1 paper
NM_005419.4
p.P292L
c.875C>T
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