Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.E938D

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.E938D
c.2814A>C
Surrounding Variants
1 paper
NM_025003.5
p.E938D
c.2814A>T
1 paper
NM_025003.5
p.Q940H
c.2820G>T
1 paper
NM_025003.5
p.Q940H
c.2820G>C
1 paper
NM_025003.5
p.Q943P
c.2828A>C
1 paper
NM_025003.5
p.W970*
c.2909G>A
1 paper
NM_025003.5
p.W970*
c.2910G>A
1 paper
NM_025003.5
p.G983V
c.2948G>T
1 paper
NM_025003.5
p.R987K
c.2960G>A
1 paper
NM_025003.5
p.R989*
c.2965C>T
1 paper
NM_025003.5
p.C993S
c.2977T>A
1 paper
NM_025003.5
p.C993S
c.2978G>C
1 paper
NM_025003.5
p.N996T
c.2987A>C
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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."