Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.S9R

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.S9R
c.27C>G
Surrounding Variants
3 papers
NM_001987.5
p.S9R
c.27C>A
1 paper
NM_001987.5
p.S9_I10insFs
c.27_28insT
1 paper
NM_001987.5
p.S9S
c.27C>T
1 paper
NM_001987.5
p.I10delFs
c.28delA
3 papers
NM_001987.5
p.I10V
c.28A>G
2 papers
NM_001987.5
p.I10F
c.28A>T
7 papers
NM_001987.5
p.S9N
c.26G>A
5 papers
NM_001987.5
p.S9T
c.26G>C
1 paper
NM_001987.5
p.S9fs
c.25_26fs
2 papers
NM_001987.5
p.S9R
c.25A>C
2 papers
NM_001987.5
p.S9G
c.25A>G
1 paper
NM_001987.5
p.I10N
c.29T>A
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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."