Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.P373L

ETV6

2,322 papers

RefSeq Summary

This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with ...

Pfam Domains

SAM_PNTaa 38–124UCSCSterile alpha motif (SAM)/Pointed domain
Etsaa 338–420UCSCEts-domain

Gene Aliases

HGNC Name

ETS variant transcription factor 6

HGNC Alias Symbol

TEL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
6 papers
NM_001987.5
p.P373L
c.1118C>T
Surrounding Variants
1 paper
NM_001987.5
p.P373S
c.1117C>T
1 paper
NM_001987.5
p.P373delFs
c.1119delC
2 papers
NM_001987.5
p.N374insFs
c.1121_1122insG
1 paper
NM_001987.5
p.D372insFs
c.1116dupT
1 paper
NM_001987.5
p.D372G
c.1115A>G
1 paper
NM_001987.5
p.N374S
c.1121A>G
1 paper
NM_001987.5
p.N374I
c.1121A>T
2 papers
NM_001987.5
p.D372N
c.1114G>A
1 paper
NM_001987.5
p.D372H
c.1114G>C
1 paper
NM_001987.5
p.D372fs
c.1114_1115fs
8 papers
NM_001987.5
p.G375R
c.1123G>A
10 papers
NM_001987.5
p.G375R
c.1123G>C
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