Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R103H

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
12 papers
NM_001987.5
p.R103H
c.308G>A
Surrounding Variants
1 paper
NM_001987.5
p.R103P
c.308G>C
1 paper
NM_001987.5
p.R103ins1
c.308_309insCCC
2 papers
NM_001987.5
p.R103L
c.308G>T
1 paper
NM_001987.5
p.R103_S106Fs
c.308_318delinsAFs
2 papers
NM_001987.5
p.R103S
c.307C>A
1 paper
NM_001987.5
p.R103_Y104ins3
c.309_310ins9
8 papers
NM_001987.5
p.R103fs
c.307_308fs
2 papers
NM_001987.5
p.R103G
c.307C>G
1 paper
NM_001987.5
p.R103C
c.307C>T
3 papers
NM_001987.5
p.R103fs
c.307_308fs
1 paper
NM_001987.5
p.F102L
c.306T>A
1 paper
NM_001987.5
p.F102L
c.306T>G
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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."