Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS19
Variant:p.G751E

ADAMTS19

73 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a prope...

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 19

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133638.6
p.G751E
c.2252G>A
Surrounding Variants
1 paper
NM_133638.6
p.D724N
c.2170G>A
1 paper
NM_133638.6
p.V722F
c.2164G>T
1 paper
NM_133638.6
p.C691_R699del9
c.2071_2096del27
1 paper
NM_133638.6
p.R680I
c.2039G>T
1 paper
NM_133638.6
p.G668Splc
c.2003+1G>T
4 papers
NM_133638.6
p.R662*
c.1984C>T
1 paper
NM_133638.6
p.R653*
c.1957C>T
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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."