Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R199Q

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
3 papers
NM_001987.5
p.R199Q
c.596G>A
Surrounding Variants
1 paper
NM_001987.5
p.R199fs
c.595_596fs
2 papers
NM_001987.5
p.L201delFs
c.601delC
2 papers
NM_001987.5
p.P200fs
c.598_599fs
2 papers
NM_001987.5
p.Q198_R199insFs
c.594_595insC
1 paper
NM_001987.5
p.Q198K
c.592C>A
2 papers
NM_001987.5
p.Q198E
c.592C>G
5 papers
NM_001987.5
p.Q198*
c.592C>T
2 papers
NM_001987.5
p.L201fs
c.601_602fs
2 papers
NM_001987.5
p.L201F
c.601C>T
1 paper
NM_001987.5
p.E197_Q198ins2
c.591_592ins6
21 papers
NM_001987.5
p.L201P
c.602T>C
1 paper
NM_001987.5
p.E197K
c.589G>A
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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."