Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R163K

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.R163K
c.488G>A
Surrounding Variants
1 paper
NM_001987.5
p.R163insFs
c.487_488insT
1 paper
NM_001987.5
p.R163R
c.489G>A
1 paper
NM_001987.5
p.P164A
c.490C>G
1 paper
NM_001987.5
p.P164P
c.492A>G
1 paper
NM_001987.5
p.S165P
c.493T>C
2 papers
NM_001987.5
p.S165A
c.493T>G
1 paper
NM_001987.5
p.S165fs
c.493_494fs
1 paper
NM_001987.5
p.T161I
c.482C>T
1 paper
NM_001987.5
p.T161fs
c.481_482fs
1 paper
NM_001987.5
p.S165S
c.495C>A
1 paper
NM_001987.5
p.V166insFs
c.496_497insG
1 paper
NM_001987.5
p.V166delFs
c.497_498delTG
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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."