Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.W360*

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.W360*
c.1079G>A
Surrounding Variants
1 paper
NM_001987.5
p.W360S
c.1079G>C
1 paper
NM_001987.5
p.W360*
c.1080G>A
3 papers
NM_001987.5
p.W360C
c.1080G>C
3 papers
NM_001987.5
p.W360C
c.1080G>T
2 papers
NM_001987.5
p.W360R
c.1078T>A
2 papers
NM_001987.5
p.W360R
c.1078T>C
2 papers
NM_001987.5
p.W360delFs
c.1078delT
1 paper
NM_001987.5
p.E361K
c.1081G>A
1 paper
NM_001987.5
p.E361_D362ins4
c.1081_1085ins12
1 paper
NM_001987.5
p.E361*
c.1081G>T
2 papers
NM_001987.5
p.E361G
c.1082A>G
3 papers
NM_001987.5
p.R359Q
c.1076G>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."