Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.D419E

STAT6

483 papers

RefSeq Summary

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

Pfam Domains

STAT_intaa 2–114UCSCSTAT protein, protein interaction domain
STAT_alphaaa 148–262UCSCSTAT transcription factor, coiled-coil domain
STAT_bindaa 277–413UCSCSTAT protein, DNA binding domain
STAT_linkeraa 435–518UCSCSignal transducer and activator of transcription, linker domain
SH2aa 537–616UCSCSH2 domain
STAT6_Caa 655–847UCSCSTAT6 C-terminal

Gene Aliases

HGNC Name

signal transducer and activator of transcription 6

HGNC Alias Symbols

D12S1644; IL-4-STAT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003153.5
p.D419E
c.1257C>A
Surrounding Variants
1 paper
NM_003153.5
p.D419E
c.1257C>G
6 papers
NM_003153.5
p.D419V
c.1256A>T
42 papers
NM_003153.5
p.D419G
c.1256A>G
20 papers
NM_003153.5
p.D419A
c.1256A>C
2 papers
NM_003153.5
p.N417_D419delins
c.1249_1256delinsTACCAAGG
9 papers
NM_003153.5
p.D419Y
c.1255G>T
23 papers
NM_003153.5
p.D419H
c.1255G>C
27 papers
NM_003153.5
p.D419N
c.1255G>A
3 papers
NM_003153.5
p.N420S
c.1259A>G
3 papers
NM_003153.5
p.N420T
c.1259A>C
1 paper
NM_003153.5
p.N420K
c.1260C>G
2 papers
NM_003153.5
p.N420K
c.1260C>A
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