Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.E696K

STAT3

2,222 papers

RefSeq Summary

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

Pfam Domains

STAT_intaa 2–120UCSCSTAT protein, protein interaction domain
STAT_alphaaa 113–281UCSCSTAT transcription factor, coiled-coil domain
STAT_alphaaa 145–313UCSCSTAT transcription factor, coiled-coil domain
STAT_bindaa 325–464UCSCSTAT protein, DNA binding domain
STAT_linkeraa 486–565UCSCSignal transducer and activator of transcription, linker domain
SH2aa 584–674UCSCSH2 domain

Gene Aliases

HGNC Name

signal transducer and activator of transcription 3

HGNC Alias Symbol

APRF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_139276.3
p.E696K
c.2086G>A
Surrounding Variants
1 paper
NM_139276.3
p.E696delFs
c.2086delC
2 papers
NM_139276.3
p.H694Q
c.2082T>G
2 papers
NM_139276.3
p.H694Q
c.2082T>A
1 paper
NM_139276.3
p.D698Y
c.2092G>T
2 papers
NM_139276.3
p.D698H
c.2092G>C
1 paper
NM_139276.3
p.A697delFs
c.2091delA
1 paper
NM_139276.3
p.D698fs
c.2092_2093fs
1 paper
NM_139276.3
p.Q692L
c.2075A>T
1 paper
NM_139276.3
p.P699del1
c.2095_2096delTGG
1 paper
NM_139276.3
p.Q692E
c.2074C>G
1 paper
NM_139276.3
p.S701R
c.2101A>C
1 paper
NM_139276.3
p.S701delFs
c.2101delT
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