Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H170R

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
1 paper
NM_001987.5
p.H170R
c.509A>G
Surrounding Variants
1 paper
NM_001987.5
p.H170insFs
c.509_510ins4
1 paper
NM_001987.5
p.H170Y
c.508C>T
1 paper
NM_001987.5
p.H171D
c.511C>G
2 papers
NM_001987.5
p.H171Y
c.511C>T
1 paper
NM_001987.5
p.H171ins2
c.512_513ins6
1 paper
NM_001987.5
p.V169M
c.505G>A
1 paper
NM_001987.5
p.H171Q
c.513T>A
1 paper
NM_001987.5
p.N172_P173insC
c.514_518ins3
1 paper
NM_001987.5
p.P173T
c.517C>A
1 paper
NM_001987.5
p.P173A
c.517C>G
1 paper
NM_001987.5
p.P173S
c.517C>T
1 paper
NM_001987.5
p.D167E
c.501T>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."