Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E3K

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.E3K
c.7G>A
Surrounding Variants
1 paper
NM_001987.5
p.E3Q
c.7G>C
1 paper
NM_001987.5
p.T4insFs
c.10_11ins28
1 paper
NM_001987.5
p.E3_T4del1
c.9_11delGAC
1 paper
NM_001987.5
p.S2S
c.6T>G
1 paper
NM_001987.5
p.E3insFs
c.7dupG
1 paper
NM_001987.5
p.S2_E3ins1
c.6_7insGAG
1 paper
NM_001987.5
p.S2insFs
c.6dupT
2 papers
NM_001987.5
p.S2F
c.5C>T
1 paper
NM_001987.5
p.S2_E3delFs
c.6_9del4
2 papers
NM_001987.5
p.T4A
c.10A>G
1 paper
NM_001987.5
p.S2T
c.4T>A
1 paper
NM_001987.5
p.S2Fs
c.5delinsTCACCFs
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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."