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.235+1445G>T
Surrounding Variants
1 paper
NM_004956.5
p.L79Splc
c.235+1734A>T
1 paper
NM_004956.5
p.L79Splc
c.235+1793T>C
1 paper
NM_004956.5
p.L79Splc
c.235+388T>C
1 paper
NM_004956.5
p.L79Splc
c.235+382G>A
1 paper
NM_004956.5
p.L79Splc
c.235+2692C>T
1 paper
NM_004956.5
p.L79Splc
c.235+113A>G
1 paper
NM_004956.5
p.E77K
c.229G>A
1 paper
NM_004956.5
p.Q75*
c.223C>T
1 paper
NM_004956.5
p.V71_P72insFs
c.213_214insT
1 paper
NM_004956.5
p.L79Splc
c.235+3448G>A
1 paper
NM_004956.5
p.A61Splc
c.181+8510G>T
1 paper
NM_004956.5
p.L79Splc
c.235+3600C>T
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