Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.I318T

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.I318T
c.953T>C
Surrounding Variants
1 paper
NM_001987.5
p.I318N
c.953T>A
2 papers
NM_001987.5
p.I318V
c.952A>G
1 paper
NM_001987.5
p.I318fs
c.952_953fs
1 paper
NM_001987.5
p.M319insFs
c.955_956ins8
1 paper
NM_001987.5
p.M319fs
c.955_956fs
1 paper
NM_001987.5
p.M319fs
c.955_956fs
1 paper
NM_001987.5
p.H317_I318insFs
c.951_952ins4
1 paper
NM_001987.5
p.H317N
c.949C>A
1 paper
NM_001987.5
p.M319_V322delins
c.957_966delinsT
1 paper
NM_001987.5
p.N316N
c.948C>T
1 paper
NM_001987.5
p.V320I
c.958G>A
1 paper
NM_001987.5
p.V320A
c.959T>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."