Varaico: Literature-Extracted Genetic Variants

Gene:ETV1
Variant:p.S100G

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
12 papers
NM_004956.5
p.S100G
c.298A>G
Surrounding Variants
1 paper
NM_004956.5
p.S97P
c.289T>C
1 paper
NM_004956.5
p.Q105H
c.315A>T
1 paper
NM_004956.5
p.Q105H
c.315A>C
1 paper
NM_004956.5
p.K89N
c.267G>T
1 paper
NM_004956.5
p.K89N
c.267G>C
1 paper
NM_004956.5
p.K87N
c.261A>C
1 paper
NM_004956.5
p.G114A
c.341G>C
1 paper
NM_004956.5
p.P85Q
c.254C>A
1 paper
NM_004956.5
p.E115K
c.343G>A
1 paper
NM_004956.5
p.K110_E115del6
c.328_344del18
1 paper
NM_004956.5
p.L118Fs
c.354delinsGTFs
1 paper
NM_004956.5
p.S122Splc
c.365+6G>A
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