Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L148P

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.L148P
c.443T>C
Surrounding Variants
1 paper
NM_001987.5
p.H149insFs
c.445_446insGG
1 paper
NM_001987.5
p.H149R
c.446A>G
1 paper
NM_001987.5
p.I147T
c.440T>C
1 paper
NM_001987.5
p.I147L
c.439A>T
1 paper
NM_001987.5
p.Q150del1
c.448_449delCAG
1 paper
NM_001987.5
p.I147insFs
c.439dupA
1 paper
NM_001987.5
p.V146V
c.438C>T
1 paper
NM_001987.5
p.Q150*
c.448C>T
1 paper
NM_001987.5
p.Q150delFs
c.449_450delAG
1 paper
NM_001987.5
p.N151D
c.451A>G
1 paper
NM_001987.5
p.E145insFs
c.434_435ins4
1 paper
NM_001987.5
p.E145G
c.434A>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."