Varaico: Literature-Extracted Genetic Variants

Gene:STAT1
Variant:p.N297del1

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
1 paper
NM_007315.4
p.N297del1
c.889_890delGTT
Surrounding Variants
8 papers
NM_007315.4
p.K298N
c.894A>T
8 papers
NM_007315.4
p.K298N
c.894A>C
2 papers
NM_007315.4
p.K298R
c.893A>G
1 paper
NM_007315.4
p.N297delFs
c.890delT
1 paper
NM_007315.4
p.V300L
c.898G>T
1 paper
NM_007315.4
p.V300L
c.898G>C
1 paper
NM_007315.4
p.N297S
c.890A>G
1 paper
NM_007315.4
p.K296fs
c.886_887fs
1 paper
NM_007315.4
p.K296R
c.887A>G
1 paper
NM_007315.4
p.L301S
c.902T>C
1 paper
NM_007315.4
p.T295K
c.884C>A
5 papers
NM_007315.4
p.L301del1
c.901_902delTAA
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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."