Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.M435L

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.M435L
c.1303A>C
Surrounding Variants
1 paper
NM_003153.5
p.M435L
c.1303A>T
1 paper
NM_003153.5
p.E434K
c.1300G>A
1 paper
NM_003153.5
p.M435_D436Splc
c.1305+6G>A
1 paper
NM_003153.5
p.A431A
c.1293C>T
3 papers
NM_003153.5
p.N430S
c.1289A>G
2 papers
NM_003153.5
p.N430T
c.1289A>C
2 papers
NM_003153.5
p.A424_L427del4
c.1270_1280del12
1 paper
NM_003153.5
p.I426V
c.1276A>G
1 paper
NM_003153.5
p.K423E
c.1267A>G
9 papers
NM_003153.5
p.N421K
c.1263T>G
9 papers
NM_003153.5
p.N421K
c.1263T>A
2 papers
NM_003153.5
p.N421S
c.1262A>G
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