Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.H308_R309insCCC

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.H308_R309insCCC
c.922_926ins9
Surrounding Variants
1 paper
NM_001987.5
p.H308N
c.922C>A
1 paper
NM_001987.5
p.H308Y
c.922C>T
2 papers
NM_001987.5
p.H308fs
c.922_923fs
1 paper
NM_001987.5
p.H308H
c.924T>C
1 paper
NM_001987.5
p.R309_E310ins9
c.925_929ins27
1 paper
NM_001987.5
p.R309G
c.925C>G
1 paper
NM_001987.5
p.R309W
c.925C>T
2 papers
NM_001987.5
p.S307_H308ins5
c.919_923ins15
1 paper
NM_001987.5
p.S307_H308ins6
c.919_923ins18
1 paper
NM_001987.5
p.L306fs
c.916_917fs
1 paper
NM_001987.5
p.L306_S307insC
c.916_920ins3
1 paper
NM_001987.5
p.L306_S307ins8
c.916_920ins24
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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."