Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.K99R

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
3 papers
NM_001987.5
p.K99R
c.296A>G
Surrounding Variants
1 paper
NM_001987.5
p.K99insFs
c.296_297ins5
1 paper
NM_001987.5
p.K99N
c.297A>C
1 paper
NM_001987.5
p.K99N
c.297A>T
3 papers
NM_001987.5
p.E100K
c.298G>A
1 paper
NM_001987.5
p.E100fs
c.298_299fs
1 paper
NM_001987.5
p.E100A
c.299A>C
5 papers
NM_001987.5
p.E100G
c.299A>G
2 papers
NM_001987.5
p.D101delFs
c.301delG
1 paper
NM_001987.5
p.T98S
c.293C>G
1 paper
NM_001987.5
p.T98S
c.292A>T
2 papers
NM_001987.5
p.L97_T98insFs
c.291_292insA
3 papers
NM_001987.5
p.D101fs
c.301_302fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."