Varaico: Literature-Extracted Genetic Variants

Gene:STAT2
Variant:p.C809S

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
2 papers
NM_005419.4
p.C809S
c.2426G>C
Surrounding Variants
2 papers
NM_005419.4
p.C809S
c.2425T>A
1 paper
NM_005419.4
p.R807G
c.2419A>G
1 paper
NM_005419.4
p.G819A
c.2456G>C
1 paper
NM_005419.4
p.D820_P821delins
c.2460_2461delinsCT
11 papers
NM_005419.4
p.G825C
c.2473G>T
1 paper
NM_005419.4
p.A824_G825delins
c.2472_2473delinsCT
2 papers
NM_005419.4
p.G825D
c.2474G>A
11 papers
NM_005419.4
p.Q826H
c.2478G>T
NM_198332.2
p.Q822H
c.2466G>T
10 papers
NM_005419.4
p.Q826H
c.2478G>C
NM_198332.2
p.Q822H
c.2466G>C
1 paper
NM_005419.4
p.N818_N827del10
c.2452_2480del30
1 paper
NM_005419.4
p.V829M
c.2485G>A
1 paper
NM_005419.4
p.R836H
c.2507G>A
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