Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.I539T

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
1 paper
NM_003153.5
p.I539T
c.1616T>C
Surrounding Variants
1 paper
NM_003153.5
p.S543G
c.1627A>G
8 papers
NM_003153.5
p.V547A
c.1640T>C
7 papers
NM_003153.5
p.T548A
c.1642A>G
1 paper
NM_003153.5
p.E554K
c.1660G>A
1 paper
NM_003153.5
p.E554insFs
c.1661_1662insA
1 paper
NM_003153.5
p.P555L
c.1664C>T
2 papers
NM_003153.5
p.R536Splc
c.1608-41A>C
1 paper
NM_003153.5
p.L561P
c.1682T>C
3 papers
NM_003153.5
p.R562H
c.1685G>A
1 paper
NM_003153.5
p.F563L
c.1687T>C
1 paper
NM_003153.5
p.F563L
c.1689C>G
1 paper
NM_003153.5
p.F563L
c.1689C>A
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