Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H152_E154Fs

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.H152_E154Fs
c.456_462delinsCCGGGGFs
Surrounding Variants
1 paper
NM_001987.5
p.H152Q
c.456T>A
1 paper
NM_001987.5
p.H152H
c.456T>C
1 paper
NM_001987.5
p.E153K
c.457G>A
1 paper
NM_001987.5
p.E153insFs
c.457_458insA
1 paper
NM_001987.5
p.E153fs
c.457_458fs
1 paper
NM_001987.5
p.E153fs
c.457_458fs
1 paper
NM_001987.5
p.E154insFs
c.460_461dupGA
1 paper
NM_001987.5
p.E153_E154insFs
c.459_460insTA
1 paper
NM_001987.5
p.H152Y
c.454C>T
1 paper
NM_001987.5
p.E154insFs
c.460dupG
2 papers
NM_001987.5
p.E154K
c.460G>A
1 paper
NM_001987.5
p.E154insFs
c.461_462insA
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."