Varaico: Literature-Extracted Genetic Variants

Gene:ETV7
Variant:p.Q232R

ETV7

52 papers

RefSeq Summary

The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a vari...

Pfam Domains

SAM_PNTaa 40–117UCSCSterile alpha motif (SAM)/Pointed domain
SAM_PNTaa 40–117UCSCSterile alpha motif (SAM)/Pointed domain
SAM_PNTaa 40–117UCSCSterile alpha motif (SAM)/Pointed domain
SAM_PNTaa 40–117UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 223–305UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 7

HGNC Alias Symbols

TEL2; TEL-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016135.4
p.Q232R
c.695A>G
Surrounding Variants
1 paper
NM_016135.4
p.L235F
c.703C>T
1 paper
NM_016135.4
p.D228N
c.682G>A
1 paper
NM_016135.4
p.R238L
c.713G>T
2 papers
NM_016135.4
p.A250V
c.749C>T
1 paper
NM_016135.4
p.K251N
c.753G>T
1 paper
NM_016135.4
p.K251N
c.753G>C
1 paper
NM_016135.4
p.I252T
c.755T>C
1 paper
NM_016135.4
p.D257G
c.770A>G
1 paper
NM_016135.4
p.P258S
c.772C>T
1 paper
NM_016135.4
p.G260E
c.779G>A
1 paper
NM_016135.4
p.W265*
c.794G>A
1 paper
NM_016135.4
p.W265*
c.795G>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."