Varaico: Literature-Extracted Genetic Variants

Gene:ETV1
Variant:p.L79Splc

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.L79Splc
c.236-2392T>C
Surrounding Variants
1 paper
NM_004956.5
p.L79Splc
c.236-2702G>C
1 paper
NM_004956.5
p.L79Splc
c.236-2711C>G
1 paper
NM_004956.5
p.L79Splc
c.236-2877T>C
1 paper
NM_004956.5
p.L79Splc
c.236-3175G>A
1 paper
NM_004956.5
p.L79Splc
c.236-3189T>C
1 paper
NM_004956.5
p.L79Splc
c.236-1284G>A
1 paper
NM_004956.5
p.L79Splc
c.236-3549T>G
1 paper
NM_004956.5
p.L79Splc
c.236-740C>T
1 paper
NM_004956.5
p.L79Splc
c.236-707G>A
1 paper
NM_004956.5
p.L79Splc
c.236-4498A>T
1 paper
NM_004956.5
p.P85Q
c.254C>A
1 paper
NM_004956.5
p.K87N
c.261A>C
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