Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R399H

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
21 papers
NM_001987.5
p.R399H
c.1196G>A
Surrounding Variants
1 paper
NM_001987.5
p.R399P
c.1196G>C
1 paper
NM_001987.5
p.R399Fs
c.1196delinsCCFs
2 papers
NM_001987.5
p.R399L
c.1196G>T
1 paper
NM_001987.5
p.R399S
c.1195C>A
1 paper
NM_001987.5
p.R399ins1
c.1196_1197insTTG
1 paper
NM_001987.5
p.R399fs
c.1195_1196fs
1 paper
NM_001987.5
p.R399G
c.1195C>G
33 papers
NM_001987.5
p.R399C
c.1195C>T
2 papers
NM_001987.5
p.R399fs
c.1195_1196fs
1 paper
NM_001987.5
p.H400Y
c.1198C>T
1 paper
NM_001987.5
p.H400fs
c.1198_1199fs
1 paper
NM_001987.5
p.L398L
c.1194G>A
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