Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.F417fs

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.F417fs
c.1249_1250fs
Surrounding Variants
2 papers
NM_001987.5
p.F417L
c.1249T>C
2 papers
NM_001987.5
p.F417fs
c.1249_1250fs
1 paper
NM_001987.5
p.L416_F417insFs
c.1248_1249insC
2 papers
NM_001987.5
p.F417C
c.1250T>G
1 paper
NM_001987.5
p.F417delFs
c.1251delC
2 papers
NM_001987.5
p.F417L
c.1251C>A
2 papers
NM_001987.5
p.F417L
c.1251C>G
21 papers
NM_001987.5
p.R418G
c.1252A>G
2 papers
NM_001987.5
p.R418W
c.1252A>T
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.L415L
c.1245T>A
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