Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.H415N

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
3 papers
NM_003153.5
p.H415N
c.1243C>A
Surrounding Variants
1 paper
NM_003153.5
p.G416C
c.1246G>T
3 papers
NM_003153.5
p.G416R
c.1246G>C
1 paper
NM_003153.5
p.V414I
c.1240G>A
2 papers
NM_003153.5
p.G416V
c.1247G>T
21 papers
NM_003153.5
p.N417Y
c.1249A>T
3 papers
NM_003153.5
p.N417D
c.1249A>G
4 papers
NM_003153.5
p.N417S
c.1250A>G
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
6 papers
NM_003153.5
p.D419V
c.1256A>T
42 papers
NM_003153.5
p.D419G
c.1256A>G
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