Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.H542P

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.H542P
c.1625A>C
Surrounding Variants
1 paper
NM_025003.5
p.R541L
c.1622G>T
1 paper
NM_025003.5
p.R541H
c.1622G>A
1 paper
NM_025003.5
p.C545S
c.1633T>A
1 paper
NM_025003.5
p.C545S
c.1634G>C
1 paper
NM_025003.5
p.V546L
c.1636G>T
1 paper
NM_025003.5
p.V546L
c.1636G>C
1 paper
NM_025003.5
p.T550M
c.1649C>T
2 papers
NM_025003.5
p.R553H
c.1658G>A
1 paper
NM_025003.5
p.P554H
c.1661C>A
1 paper
NM_025003.5
p.G557S
c.1669G>A
1 paper
NM_025003.5
p.W562*
c.1685G>A
1 paper
NM_025003.5
p.W562*
c.1686G>A
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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."