Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.N382I

ETV6

2,322 papers

RefSeq Summary

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with ...

Pfam Domains

SAM_PNTaa 38–124UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 338–420UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 6

HGNC Alias Symbol

TEL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001987.5
p.N382I
c.1145A>T
Surrounding Variants
1 paper
NM_001987.5
p.N382delFs
c.1146delC
1 paper
NM_001987.5
p.N382fs
c.1144_1145fs
1 paper
NM_001987.5
p.N382fs
c.1144_1145fs
1 paper
NM_001987.5
p.N382K
c.1146C>A
1 paper
NM_001987.5
p.N382K
c.1146C>G
1 paper
NM_001987.5
p.H383D
c.1147C>G
2 papers
NM_001987.5
p.H383R
c.1148A>G
4 papers
NM_001987.5
p.G381E
c.1142G>A
4 papers
NM_001987.5
p.G381R
c.1141G>A
4 papers
NM_001987.5
p.G381R
c.1141G>C
3 papers
NM_001987.5
p.G381fs
c.1141_1142fs
1 paper
NM_001987.5
p.K384Q
c.1150A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."