Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.M330I

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.M330I
c.990G>T
Surrounding Variants
1 paper
NM_001987.5
p.M330I
c.990G>A
1 paper
NM_001987.5
p.M330I
c.990G>C
1 paper
NM_001987.5
p.M330fs
c.988_989fs
1 paper
NM_001987.5
p.M330V
c.988A>G
1 paper
NM_001987.5
p.P331insFs
c.992_993insCG
1 paper
NM_001987.5
p.A329A
c.987C>G
1 paper
NM_001987.5
p.I332V
c.994A>G
1 paper
NM_001987.5
p.A329V
c.986C>T
7 papers
NM_001987.5
p.A329T
c.985G>A
1 paper
NM_001987.5
p.G333W
c.997G>T
2 papers
NM_001987.5
p.H328Y
c.982C>T
1 paper
NM_001987.5
p.E327D
c.981G>C
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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."