Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.K11K

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
2 papers
NM_001987.5
p.K11K
c.33G>A
Surrounding Variants
3 papers
NM_001987.5
p.K11N
c.33G>C
3 papers
NM_001987.5
p.K11N
c.33G>T
1 paper
NM_001987.5
p.K11ins3
c.32_33ins9
1 paper
NM_001987.5
p.K11T
c.32A>C
1 paper
NM_001987.5
p.K11R
c.32A>G
3 papers
NM_001987.5
p.K11delFs
c.33delG
18 papers
NM_001987.5
p.K11_Q12Splc
c.33+1G>A
2 papers
NM_001987.5
p.K11_Q12Splc
c.33+1G>C
2 papers
NM_001987.5
p.K11_Q12Splc
c.33+1G>T
1 paper
NM_001987.5
p.K11insFs
c.32_33ins4
3 papers
NM_001987.5
p.K11fs
c.31_32fs
2 papers
NM_001987.5
p.K11*
c.31A>T
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