Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.T98S

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.T98S
c.292A>T
Surrounding Variants
1 paper
NM_001987.5
p.T98S
c.293C>G
2 papers
NM_001987.5
p.L97_T98insFs
c.291_292insA
2 papers
NM_001987.5
p.L97Q
c.290T>A
2 papers
NM_001987.5
p.L97P
c.290T>C
1 paper
NM_001987.5
p.L97R
c.290T>G
1 paper
NM_001987.5
p.K99insFs
c.296_297ins5
1 paper
NM_001987.5
p.L97fs
c.289_290fs
3 papers
NM_001987.5
p.K99R
c.296A>G
1 paper
NM_001987.5
p.L96L
c.288G>A
1 paper
NM_001987.5
p.K99N
c.297A>C
1 paper
NM_001987.5
p.K99N
c.297A>T
1 paper
NM_001987.5
p.L96P
c.287T>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."