Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H400_L404insFs

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.H400_L404insFs
c.1200_1210dup11
Surrounding Variants
2 papers
NM_001987.5
p.H400R
c.1199A>G
1 paper
NM_001987.5
p.H400L
c.1199A>T
1 paper
NM_001987.5
p.H400Q
c.1200C>A
1 paper
NM_001987.5
p.H400Q
c.1200C>G
1 paper
NM_001987.5
p.H400Y
c.1198C>T
1 paper
NM_001987.5
p.H400fs
c.1198_1199fs
7 papers
NM_001987.5
p.Y401N
c.1201T>A
6 papers
NM_001987.5
p.Y401H
c.1201T>C
1 paper
NM_001987.5
p.Y401D
c.1201T>G
2 papers
NM_001987.5
p.Y401S
c.1202A>C
7 papers
NM_001987.5
p.Y401C
c.1202A>G
1 paper
NM_001987.5
p.Y401_Y402delFs
c.1203_1206del4
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