Varaico: Literature-Extracted Genetic Variants

Gene:ETV7
Variant:p.I220V

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.I220V
c.658A>G
Surrounding Variants
1 paper
NM_016135.4
p.D222N
c.664G>A
1 paper
NM_016135.4
p.P212L
c.635C>T
1 paper
NM_016135.4
p.A210T
c.628G>A
1 paper
NM_016135.4
p.D175H
c.523G>C
1 paper
NM_016135.4
p.P143P
c.429G>T
1 paper
NM_016135.4
p.T134M
c.401C>T
1 paper
NM_016135.4
p.F126I
c.376T>A
1 paper
NM_016135.4
p.F125V
c.373T>G
1 paper
NM_016135.4
p.V121V
c.363G>A
1 paper
NM_016135.4
p.Q116_R118del0
c.346_354del9
1 paper
NM_016135.4
p.Y112S
c.335A>C
2 papers
NM_016135.4
p.V105A
c.314T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."