Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS20
Variant:p.E317A

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.E317A
c.950A>C
Surrounding Variants
1 paper
NM_025003.5
p.R315G
c.943C>G
1 paper
NM_025003.5
p.H314Y
c.940C>T
1 paper
NM_025003.5
p.V311I
c.931G>A
1 paper
NM_025003.5
p.V307M
c.919G>A
1 paper
NM_025003.5
p.I303V
c.907A>G
1 paper
NM_025003.5
p.G326C
c.976G>T
1 paper
NM_025003.5
p.D344N
c.1030G>A
1 paper
NM_025003.5
p.H347R
c.1040A>G
1 paper
NM_025003.5
p.L356F
c.1066C>T
1 paper
NM_025003.5
p.T358I
c.1073C>T
1 paper
NM_025003.5
p.R359S
c.1077G>T
1 paper
NM_025003.5
p.N370Y
c.1108A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."