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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMTS19

Variant:p.G1039S

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr5:129701548 G>A

NM_133638.6

p.G1039S

c.3115G>A

exact variant not in gnomAD68 overlapping SVs

Surrounding Variants

1 paper

chr5:129701419 C>T

NM_133638.6

p.R996*

c.2986C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)68 overlapping SVs

1 paper

chr5:129704294 C>A

NM_133638.6

p.P1072Q

c.3215C>A

Exome: 0.0% (AC=9, hom=0)Genome: n/a68 overlapping SVs

3 papers

chr5:129704345 A>T

NM_133638.6

p.E1089V

c.3266A>T

exact variant not in gnomAD68 overlapping SVs

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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."