Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.F130I

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.F130I
c.388T>A
Surrounding Variants
1 paper
NM_001987.5
p.F130_F133del4
c.388_398del12
5 papers
NM_001987.5
p.F130L
c.390T>A
2 papers
NM_001987.5
p.L129P
c.386T>C
4 papers
NM_001987.5
p.L129fs
c.385_386fs
2 papers
NM_001987.5
p.S131insFs
c.391dupT
1 paper
NM_001987.5
p.S131delFs
c.391delT
2 papers
NM_001987.5
p.S131fs
c.391_392fs
4 papers
NM_001987.5
p.S131fs
c.391_392fs
1 paper
NM_001987.5
p.S131*
c.392C>A
1 paper
NM_001987.5
p.S131*
c.392C>G
1 paper
NM_001987.5
p.S131L
c.392C>T
5 papers
NM_001987.5
p.L129_I140delFs
c.385_418del34
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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."