Varaico: Literature-Extracted Genetic Variants

Gene:ETV1
Variant:p.P223L

ETV1

216 papers

RefSeq Summary

This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, mig...

Pfam Domains

ETS_PEA3_Naa 1–333UCSCPEA3 subfamily ETS-domain transcription factor N terminal domain
Etsaa 334–415UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 1

HGNC Alias Symbol

ER81

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004956.5
p.P223L
c.668C>T
Surrounding Variants
1 paper
NM_004956.5
p.P221P
c.663C>G
1 paper
NM_004956.5
p.Q225K
c.673C>A
1 paper
NM_004956.5
p.P221R
c.662C>G
2 papers
NM_004956.5
p.P221A
c.661C>G
1 paper
NM_004956.5
p.K228M
c.683A>T
1 paper
NM_004956.5
p.E230delFs
c.688delC
1 paper
NM_004956.5
p.M215T
c.644T>C
1 paper
NM_004956.5
p.Y231C
c.692A>G
1 paper
NM_004956.5
p.Q214H
c.642G>T
1 paper
NM_004956.5
p.Q214H
c.642G>C
1 paper
NM_004956.5
p.H232L
c.695A>T
1 paper
NM_004956.5
p.D233delFs
c.697delC
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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."