Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.N405fs

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
4 papers
NM_001987.5
p.N405fs
c.1213_1214fs
Surrounding Variants
1 paper
NM_001987.5
p.N405insFs
c.1214_1215ins4
5 papers
NM_001987.5
p.I406del1
c.1216_1217delATT
2 papers
NM_001987.5
p.L404delins
c.1211delinsTAGCCGTGGGTCC
2 papers
NM_001987.5
p.L404Fs
c.1211delinsTATAGFs
1 paper
NM_001987.5
p.I406F
c.1216A>T
1 paper
NM_001987.5
p.L404I
c.1210C>A
3 papers
NM_001987.5
p.L404fs
c.1210_1211fs
1 paper
NM_001987.5
p.K403N
c.1209A>C
1 paper
NM_001987.5
p.K403N
c.1209A>T
1 paper
NM_001987.5
p.I406S
c.1217T>G
3 papers
NM_001987.5
p.K403R
c.1208A>G
3 papers
NM_001987.5
p.I407del1
c.1219_1220delATC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."