Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.D155Splc

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.D155Splc
c.463+2T>C
Surrounding Variants
2 papers
NM_001987.5
p.D155A
c.464A>C
1 paper
NM_001987.5
p.D155G
c.464A>G
4 papers
NM_001987.5
p.D155Splc
c.463+1G>A
1 paper
NM_001987.5
p.D155Splc
c.463+1G>C
2 papers
NM_001987.5
p.D155N
c.463G>A
2 papers
NM_001987.5
p.E154D
c.462A>C
2 papers
NM_001987.5
p.E154D
c.462A>T
2 papers
NM_001987.5
p.E154K
c.460G>A
1 paper
NM_001987.5
p.E154insFs
c.461_462insA
1 paper
NM_001987.5
p.E154*
c.460G>T
3 papers
NM_001987.5
p.E154fs
c.460_461fs
1 paper
NM_001987.5
p.E154insFs
c.460dupG
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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."