Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.V457V

STAT1

1,286 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 143–309UCSCSTAT transcription factor, coiled-coil domain
STAT_bindaa 321–458UCSCSTAT protein, DNA binding domain
STAT_linkeraa 480–558UCSCSignal transducer and activator of transcription, linker domain
SH2aa 573–651UCSCSH2 domain
STAT1_TAZ2bindaa 715–739UCSCSTAT1 TAZ2 binding domain

Gene Aliases

HGNC Name

signal transducer and activator of transcription 1

HGNC Alias Symbols

STAT91; ISGF-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007315.4
p.V457V
c.1371G>A
Surrounding Variants
1 paper
NM_007315.4
p.S459A
c.1375T>G
1 paper
NM_007315.4
p.V456G
c.1367T>G
1 paper
NM_007315.4
p.S459F
c.1376C>T
1 paper
NM_007315.4
p.V455A
c.1364T>C
5 papers
NM_007315.4
p.N460D
c.1378A>G
1 paper
NM_007315.4
p.N460H
c.1378A>C
3 papers
NM_007315.4
p.V455I
c.1363G>A
1 paper
NM_007315.4
p.N460I
c.1379A>T
1 paper
NM_007315.4
p.V461L
c.1381G>C
1 paper
NM_007315.4
p.L453P
c.1358T>C
1 paper
NM_007315.4
p.S462G
c.1384A>G
1 paper
NM_007315.4
p.S462R
c.1384A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."