Varaico: Literature-Extracted Genetic Variants

Gene:ETV7
Variant:p.R21*

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_001207037.2
p.R21*
c.61C>T
Surrounding Variants
1 paper
NM_016135.4
p.K92T
c.275A>C
1 paper
NM_016135.4
p.D94_F95ins0
c.281_283dupACT
2 papers
NM_016135.4
p.A99V
c.296C>T
1 paper
NM_016135.4
p.R85H
c.254G>A
3 papers
NM_016135.4
p.E81K
c.241G>A
1 paper
NM_016135.4
p.G79E
c.236G>A
3 papers
NM_016135.4
p.G79R
c.235G>C
3 papers
NM_016135.4
p.G79R
c.235G>A
1 paper
NM_016135.4
p.A76V
c.227C>T
1 paper
NM_016135.4
p.Q68Q
c.204G>A
1 paper
NM_016135.4
p.W65*
c.195G>A
1 paper
NM_016135.4
p.W65*
c.194G>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."