Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D206D

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.D206D
c.618C>T
Surrounding Variants
1 paper
NM_001987.5
p.D206E
c.618C>A
1 paper
NM_001987.5
p.D206E
c.618C>G
1 paper
NM_001987.5
p.N207fs
c.619_620fs
1 paper
NM_001987.5
p.N207delFs
c.621delC
6 papers
NM_001987.5
p.L205fs
c.613_614fs
2 papers
NM_001987.5
p.L205delFs
c.614delT
7 papers
NM_001987.5
p.L205fs
c.613_614fs
1 paper
NM_001987.5
p.M208R
c.623T>G
1 paper
NM_001987.5
p.M208I
c.624G>A
1 paper
NM_001987.5
p.I209fs
c.625_626fs
1 paper
NM_001987.5
p.P204L
c.611C>T
1 paper
NM_001987.5
p.P204fs
c.610_611fs
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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."