Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R369W

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
42 papers
NM_001987.5
p.R369W
c.1105C>T
Surrounding Variants
1 paper
NM_001987.5
p.R369G
c.1105C>G
8 papers
NM_001987.5
p.F368L
c.1104C>A
8 papers
NM_001987.5
p.F368L
c.1104C>G
47 papers
NM_001987.5
p.R369Q
c.1106G>A
1 paper
NM_001987.5
p.R369P
c.1106G>C
4 papers
NM_001987.5
p.R369L
c.1106G>T
1 paper
NM_001987.5
p.F368C
c.1103T>G
1 paper
NM_001987.5
p.F368I
c.1102T>A
8 papers
NM_001987.5
p.F368L
c.1102T>C
1 paper
NM_001987.5
p.I370R
c.1109T>G
1 paper
NM_001987.5
p.I370M
c.1110A>G
1 paper
NM_001987.5
p.V371delFs
c.1111delG
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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."