Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M389delFs

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
1 paper
NM_001987.5
p.M389delFs
c.1165_1166delAT
Surrounding Variants
1 paper
NM_001987.5
p.M389fs
c.1165_1166fs
1 paper
NM_001987.5
p.M389insFs
c.1166_1167ins8
5 papers
NM_001987.5
p.M389V
c.1165A>G
1 paper
NM_001987.5
p.N388D
c.1162A>G
2 papers
NM_001987.5
p.M389R
c.1166T>G
1 paper
NM_001987.5
p.M389insFs
c.1167dupG
5 papers
NM_001987.5
p.M389I
c.1167G>A
5 papers
NM_001987.5
p.M389I
c.1167G>C
5 papers
NM_001987.5
p.M389I
c.1167G>T
1 paper
NM_001987.5
p.T390fs
c.1168_1169fs
1 paper
NM_001987.5
p.T390P
c.1168A>C
5 papers
NM_001987.5
p.T390A
c.1168A>G
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