Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.K302T

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.K302T
c.905A>C
Surrounding Variants
1 paper
NM_001987.5
p.K302R
c.905A>G
1 paper
NM_001987.5
p.P303A
c.907C>G
1 paper
NM_001987.5
p.P303S
c.907C>T
1 paper
NM_001987.5
p.K302_L306del5
c.904_917del15
1 paper
NM_001987.5
p.P303Fs
c.908delinsCTFs
1 paper
NM_001987.5
p.P303P
c.909C>G
1 paper
NM_001987.5
p.G301insFs
c.901_902insC
1 paper
NM_001987.5
p.I304fs
c.910_911fs
1 paper
NM_001987.5
p.I304fs
c.910_911fs
1 paper
NM_001987.5
p.I304_N305insFs
c.912_913insG
1 paper
NM_001987.5
p.E300K
c.898G>A
3 papers
NM_001987.5
p.N305_L306insTC
c.913_917ins6
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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."