Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.L348*

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.L348*
c.1043T>A
Surrounding Variants
1 paper
NM_001987.5
p.L348L
c.1044G>A
2 papers
NM_001987.5
p.L348F
c.1044G>C
2 papers
NM_001987.5
p.L348F
c.1044G>T
1 paper
NM_001987.5
p.L348V
c.1042T>G
1 paper
NM_001987.5
p.L349fs
c.1045_1046fs
1 paper
NM_001987.5
p.L349F
c.1045C>T
1 paper
NM_001987.5
p.L349delFs
c.1046delT
6 papers
NM_001987.5
p.Q347P
c.1040A>C
1 paper
NM_001987.5
p.Q347R
c.1040A>G
11 papers
NM_001987.5
p.L349P
c.1046T>C
6 papers
NM_001987.5
p.Q347*
c.1039C>T
1 paper
NM_001987.5
p.Q347fs
c.1039_1040fs
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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."