Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L297L

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.L297L
c.889C>T
Surrounding Variants
1 paper
NM_001987.5
p.H298delFs
c.892delC
1 paper
NM_001987.5
p.H298N
c.892C>A
1 paper
NM_001987.5
p.H298Y
c.892C>T
1 paper
NM_001987.5
p.G296R
c.886G>A
1 paper
NM_001987.5
p.G296R
c.886G>C
1 paper
NM_001987.5
p.G296_L297ins5
c.886_890ins15
2 papers
NM_001987.5
p.H298P
c.893A>C
1 paper
NM_001987.5
p.H298R
c.893A>G
1 paper
NM_001987.5
p.D295_G296insFs
c.885_886insA
1 paper
NM_001987.5
p.D295G
c.884A>G
2 papers
NM_001987.5
p.H298Q
c.894T>A
2 papers
NM_001987.5
p.H298Q
c.894T>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."