Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.G1214R

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
2 papers
NM_025003.5
p.G1214R
c.3640G>A
Surrounding Variants
2 papers
NM_025003.5
p.G1214R
c.3640G>C
1 paper
NM_025003.5
p.E1210*
c.3628G>T
1 paper
NM_025003.5
p.C1208S
c.3623G>C
1 paper
NM_025003.5
p.C1208S
c.3622T>A
1 paper
NM_025003.5
p.P1207H
c.3620C>A
1 paper
NM_025003.5
p.C1204S
c.3611G>C
1 paper
NM_025003.5
p.C1204S
c.3610T>A
1 paper
NM_025003.5
p.E1200*
c.3598G>T
2 papers
NM_025003.5
p.R1197*
c.3589C>T
1 paper
NM_025003.5
p.A1187S
c.3559G>T
1 paper
NM_025003.5
p.R1185I
c.3554G>T
2 papers
NM_025003.5
p.R1180H
c.3539G>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."