Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L416insFs

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
2 papers
NM_001987.5
p.L416insFs
c.1246dupT
Surrounding Variants
1 paper
NM_001987.5
p.L415I
c.1243C>A
1 paper
NM_001987.5
p.L415fs
c.1243_1244fs
1 paper
NM_001987.5
p.R414S
c.1242G>C
1 paper
NM_001987.5
p.R414S
c.1242G>T
1 paper
NM_001987.5
p.R414M
c.1241G>T
1 paper
NM_001987.5
p.L415L
c.1245T>A
5 papers
NM_001987.5
p.L416_F417del2
c.1246_1250del6
1 paper
NM_001987.5
p.R414fs
c.1240_1241fs
2 papers
NM_001987.5
p.L416M
c.1246T>A
3 papers
NM_001987.5
p.L416fs
c.1246_1247fs
1 paper
NM_001987.5
p.L416_F417insFs
c.1248_1249insC
1 paper
NM_001987.5
p.Q413fs
c.1237_1238fs
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