Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D351E

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.D351E
c.1053C>A
Surrounding Variants
1 paper
NM_001987.5
p.D351E
c.1053C>G
1 paper
NM_001987.5
p.D351A
c.1052A>C
1 paper
NM_001987.5
p.S352G
c.1054A>G
1 paper
NM_001987.5
p.D351_Y354delFs
c.1053_1060del8
1 paper
NM_001987.5
p.D351H
c.1051G>C
1 paper
NM_001987.5
p.D351fs
c.1051_1052fs
1 paper
NM_001987.5
p.R353R
c.1057C>A
2 papers
NM_001987.5
p.R353W
c.1057C>T
4 papers
NM_001987.5
p.R353Q
c.1058G>A
8 papers
NM_001987.5
p.R353P
c.1058G>C
2 papers
NM_001987.5
p.S350P
c.1048T>C
1 paper
NM_001987.5
p.S350A
c.1048T>G
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."