Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R202Q

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
40 papers
NM_001987.5
p.R202Q
c.605G>A
Surrounding Variants
1 paper
NM_001987.5
p.R202G
c.604C>G
1 paper
NM_001987.5
p.S203P
c.607T>C
1 paper
NM_001987.5
p.S203A
c.607T>G
6 papers
NM_001987.5
p.L205insFs
c.613dupC
1 paper
NM_001987.5
p.S203fs
c.607_608fs
1 paper
NM_001987.5
p.S203delFs
c.608delC
1 paper
NM_001987.5
p.S203F
c.608C>T
21 papers
NM_001987.5
p.L201P
c.602T>C
1 paper
NM_001987.5
p.S203_P204insFs
c.609_610insG
2 papers
NM_001987.5
p.L201fs
c.601_602fs
2 papers
NM_001987.5
p.L201F
c.601C>T
2 papers
NM_001987.5
p.S203S
c.609C>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."