Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.R1000C

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
3 papers
NM_025003.5
p.R1000C
c.2998C>T
Surrounding Variants
5 papers
NM_025003.5
p.R1000H
c.2999G>A
1 paper
NM_025003.5
p.L1001H
c.3002T>A
1 paper
NM_025003.5
p.N996T
c.2987A>C
1 paper
NM_025003.5
p.N1004S
c.3011A>G
1 paper
NM_025003.5
p.C993S
c.2978G>C
1 paper
NM_025003.5
p.C993S
c.2977T>A
1 paper
NM_025003.5
p.S1010P
c.3028T>C
1 paper
NM_025003.5
p.R989*
c.2965C>T
1 paper
NM_025003.5
p.R987K
c.2960G>A
1 paper
NM_025003.5
p.T1013M
c.3038C>T
1 paper
NM_025003.5
p.G983V
c.2948G>T
1 paper
NM_025003.5
p.C1017W
c.3051C>G
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