Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.H437Q

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.H437Q
c.1311C>G
Surrounding Variants
1 paper
NM_025003.5
p.H437Q
c.1311C>A
1 paper
NM_025003.5
p.M438R
c.1313T>G
2 papers
NM_025003.5
p.P432P
c.1296T>C
2 papers
NM_025003.5
p.R448W
c.1342C>T
1 paper
NM_025003.5
p.K423K
c.1269A>G
1 paper
NM_025003.5
p.E453delFs
c.1358_1359delTT
1 paper
NM_025003.5
p.E421V
c.1262A>T
1 paper
NM_025003.5
p.L409delFs
c.1226_1227delAA
1 paper
NM_025003.5
p.A402V
c.1205C>T
1 paper
NM_025003.5
p.G394E
c.1181G>A
1 paper
NM_025003.5
p.I389T
c.1166T>C
1 paper
NM_025003.5
p.Q385insFs
c.1154_1155ins5
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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."