Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L235L

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.L235L
c.705G>T
Surrounding Variants
1 paper
NM_001987.5
p.L235P
c.704T>C
1 paper
NM_001987.5
p.S236_V237ins7
c.706_710ins21
2 papers
NM_001987.5
p.S236fs
c.706_707fs
2 papers
NM_001987.5
p.L235fs
c.703_704fs
1 paper
NM_001987.5
p.L235insFs
c.704dupT
2 papers
NM_001987.5
p.L235fs
c.703_704fs
1 paper
NM_001987.5
p.V237L
c.709G>C
1 paper
NM_001987.5
p.V237L
c.709G>T
1 paper
NM_001987.5
p.P234insFs
c.700_701insCT
1 paper
NM_001987.5
p.P234insFs
c.700_701ins4
2 papers
NM_001987.5
p.P234fs
c.700_701fs
1 paper
NM_001987.5
p.P234A
c.700C>G
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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."