Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.P214Q

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.P214Q
c.641C>A
Surrounding Variants
2 papers
NM_001987.5
p.P214R
c.641C>G
61 papers
NM_001987.5
p.P214L
c.641C>T
1 paper
NM_001987.5
p.P214fs
c.640_641fs
3 papers
NM_001987.5
p.P214S
c.640C>T
1 paper
NM_001987.5
p.A215fs
c.643_644fs
1 paper
NM_001987.5
p.A215D
c.644C>A
2 papers
NM_001987.5
p.A215V
c.644C>T
1 paper
NM_001987.5
p.A215A
c.645T>G
1 paper
NM_001987.5
p.P214insFs
c.641_642insC
1 paper
NM_001987.5
p.E216K
c.646G>A
1 paper
NM_001987.5
p.L212P
c.635T>C
1 paper
NM_001987.5
p.L212insFs
c.634_635insG
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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."