Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.V285A

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
2 papers
NM_001987.5
p.V285A
c.854T>C
Surrounding Variants
2 papers
NM_001987.5
p.V285M
c.853G>A
1 paper
NM_001987.5
p.V285V
c.855G>A
2 papers
NM_001987.5
p.V285fs
c.853_854fs
1 paper
NM_001987.5
p.S284S
c.852C>G
1 paper
NM_001987.5
p.S284S
c.852C>T
1 paper
NM_001987.5
p.D286N
c.856G>A
3 papers
NM_001987.5
p.S284F
c.851C>T
1 paper
NM_001987.5
p.D286E
c.858T>A
3 papers
NM_001987.5
p.S284P
c.850T>C
1 paper
NM_001987.5
p.S284A
c.850T>G
1 paper
NM_001987.5
p.D286E
c.858T>G
1 paper
NM_001987.5
p.H283Q
c.849C>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."