Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.P501P

ADAMTS20

213 papers

RefSeq Summary

The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted...

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 20

HGNC Alias Symbol

GON-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025003.5
p.P501P
c.1503C>T
Surrounding Variants
1 paper
NM_025003.5
p.A492V
c.1475C>T
1 paper
NM_025003.5
p.L491V
c.1471C>G
1 paper
NM_025003.5
p.R482*
c.1444C>T
1 paper
NM_025003.5
p.R482G
c.1444C>G
1 paper
NM_025003.5
p.G458S
c.1372G>A
1 paper
NM_025003.5
p.E515G
c.1544A>G
1 paper
NM_025003.5
p.E515E
c.1545A>G
1 paper
NM_025003.5
p.H518Y
c.1552C>T
1 paper
NM_025003.5
p.T523A
c.1567A>G
1 paper
NM_025003.5
p.A529S
c.1585G>T
1 paper
NM_025003.5
p.E453delFs
c.1358_1359delTT
2 papers
NM_025003.5
p.R448W
c.1342C>T
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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."