Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.R1230*

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.R1230*
c.3688C>T
Surrounding Variants
1 paper
NM_025003.5
p.R1230Q
c.3689G>A
1 paper
NM_025003.5
p.Q1231*
c.3691C>T
1 paper
NM_025003.5
p.G1226_K1227del2
c.3676_3680del6
1 paper
NM_025003.5
p.P1248L
c.3743C>T
1 paper
NM_025003.5
p.P1252T
c.3754C>A
1 paper
NM_025003.5
p.A1262T
c.3784G>A
1 paper
NM_025003.5
p.F1270V
c.3808T>G
1 paper
NM_025003.5
p.P1271T
c.3811C>A
5 papers
NM_025003.5
p.S1273F
c.3818C>T
2 papers
NM_025003.5
p.G1214R
c.3640G>C
2 papers
NM_025003.5
p.G1214R
c.3640G>A
1 paper
NM_025003.5
p.L1281I
c.3841C>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."