Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.Q7Q

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.Q7Q
c.21G>A
Surrounding Variants
1 paper
NM_001987.5
p.Q7insFs
c.21dupG
1 paper
NM_001987.5
p.Q7insFs
c.20_21ins17
2 papers
NM_001987.5
p.Q7K
c.19C>A
2 papers
NM_001987.5
p.Q7*
c.19C>T
1 paper
NM_001987.5
p.Q7_K11delFs
c.20_33del14
1 paper
NM_001987.5
p.C8F
c.23G>T
2 papers
NM_001987.5
p.A6A
c.18T>A
1 paper
NM_001987.5
p.C8*
c.24T>A
1 paper
NM_001987.5
p.C8C
c.24T>C
1 paper
NM_001987.5
p.C8W
c.24T>G
1 paper
NM_001987.5
p.S9_K11del3
c.25_32del9
2 papers
NM_001987.5
p.Q7_C8delFs
c.19_23del5
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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."