Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L404fs

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
3 papers
NM_001987.5
p.L404fs
c.1210_1211fs
Surrounding Variants
1 paper
NM_001987.5
p.L404I
c.1210C>A
1 paper
NM_001987.5
p.K403N
c.1209A>C
1 paper
NM_001987.5
p.K403N
c.1209A>T
2 papers
NM_001987.5
p.L404delins
c.1211delinsTAGCCGTGGGTCC
2 papers
NM_001987.5
p.L404Fs
c.1211delinsTATAGFs
3 papers
NM_001987.5
p.K403R
c.1208A>G
4 papers
NM_001987.5
p.N405fs
c.1213_1214fs
1 paper
NM_001987.5
p.K403_L404insT
c.1207_1211ins3
1 paper
NM_001987.5
p.K403E
c.1207A>G
1 paper
NM_001987.5
p.N405insFs
c.1214_1215ins4
1 paper
NM_001987.5
p.K403delFs
c.1209delA
1 paper
NM_001987.5
p.Y402C
c.1205A>G
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