Varaico: Literature-Extracted Genetic Variants

Gene:STAT6
Variant:p.L403R

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.L403R
c.1208T>G
Surrounding Variants
1 paper
NM_003153.5
p.Q404K
c.1210C>A
1 paper
NM_003153.5
p.L403delFs
c.1209delG
1 paper
NM_003153.5
p.P400R
c.1199C>G
1 paper
NM_003153.5
p.K398R
c.1193A>G
1 paper
NM_003153.5
p.G397_K398insFs
c.1191_1192insG
1 paper
NM_003153.5
p.A390S
c.1168G>T
5 papers
NM_003153.5
p.E382Q
c.1144G>C
1 paper
NM_003153.5
p.E382K
c.1144G>A
1 paper
NM_003153.5
p.E377D
c.1131G>T
1 paper
NM_003153.5
p.E377D
c.1131G>C
3 papers
NM_003153.5
p.E377Q
c.1129G>C
14 papers
NM_003153.5
p.E377K
c.1129G>A
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