Varaico: Literature-Extracted Genetic Variants

Gene:ETV6

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
1–12 of 1670 variants
61 papers
NM_001987.5
p.P214L
c.641C>T
47 papers
NM_001987.5
p.R369Q
c.1106G>A
42 papers
NM_001987.5
p.R369W
c.1105C>T
40 papers
NM_001987.5
p.R202Q
c.605G>A
33 papers
NM_001987.5
p.R399C
c.1195C>T
22 papers
NM_001987.5
p.R359*
c.1075C>T
21 papers
NM_001987.5
p.L201P
c.602T>C
21 papers
NM_001987.5
p.R399H
c.1196G>A
21 papers
NM_001987.5
p.R418G
c.1252A>G
18 papers
NM_001987.5
p.K11_Q12Splc
c.33+1G>A
14 papers
NM_001987.5
p.R127Q
c.380G>A
13 papers
NM_001987.5
p.R105*
c.313C>T
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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."