Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R353Q

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
4 papers
NM_001987.5
p.R353Q
c.1058G>A
Surrounding Variants
8 papers
NM_001987.5
p.R353P
c.1058G>C
1 paper
NM_001987.5
p.R353R
c.1057C>A
2 papers
NM_001987.5
p.R353W
c.1057C>T
1 paper
NM_001987.5
p.R353R
c.1059G>C
1 paper
NM_001987.5
p.Y354H
c.1060T>C
2 papers
NM_001987.5
p.Y354F
c.1061A>T
1 paper
NM_001987.5
p.S352G
c.1054A>G
3 papers
NM_001987.5
p.Y354*
c.1062C>A
3 papers
NM_001987.5
p.Y354*
c.1062C>G
1 paper
NM_001987.5
p.D351E
c.1053C>A
1 paper
NM_001987.5
p.D351E
c.1053C>G
2 papers
NM_001987.5
p.E355K
c.1063G>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."