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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAMDEC1

ADAMDEC1

44 papers

RefSeq Summary

This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play a...

Pfam Domains

Pep_M12B_propepaa 43–131UCSCReprolysin family propeptide

Reprolysinaa 218–412UCSCReprolysin (M12B) family zinc metalloprotease

Gene Aliases

HGNC Name

ADAM like decysin 1

HGNC Alias Symbol

M12.219

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 54 variants

5 papers

chr8:24404013 A>G

NM_014479.3

p.N444S

c.1331A>G

Exome: 42.3% (AC=616932, hom=133830)Genome: 34.3% (AC=52109, hom=10343)17 overlapping SVs

5 papers

chr8:24404034 C>T

NM_014479.3

p.T451M

c.1352C>T

Exome: 1.0% (AC=15264, hom=95)Genome: 0.7% (AC=1135, hom=10)17 overlapping SVs

2 papers

chr8:24393319 C>G

NM_014479.3

p.L89V

c.265C>G

Pep_M12B_propep

Exome: 1.4% (AC=19932, hom=213)Genome: 1.3% (AC=1935, hom=25)17 overlapping SVs

2 papers

chr8:24400216 A>C

NM_014479.3

p.E353A

c.1058A>C

Reprolysin

exact variant not in gnomAD19 overlapping SVs

2 papers

chr8:24400242 G>C

NM_014479.3

p.D362H

c.1084G>C

Reprolysin

exact variant not in gnomAD19 overlapping SVs

2 papers

chr8:24401946 T>A

NM_014479.3

p.C392S

c.1174T>A

Reprolysin

exact variant not in gnomAD17 overlapping SVs

2 papers

chr8:24401947 G>C

NM_014479.3

p.C392S

c.1175G>C

Reprolysin

exact variant not in gnomAD17 overlapping SVs

1 paper

chr8:24392292 C>T

NM_014479.3

p.T40M

c.119C>T

Exome: 0.0% (AC=634, hom=4)Genome: 0.4% (AC=616, hom=2)17 overlapping SVs

1 paper

chr8:24392310 G>C

NM_014479.3

p.C46S

c.137G>C

Pep_M12B_propep

Exome: 0.0% (AC=1, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr8:24393293 T>C

NM_014479.3

p.M80T

c.239T>C

Pep_M12B_propep

exact variant not in gnomAD17 overlapping SVs

1 paper

chr8:24393294 G>A

NM_014479.3

p.M80I

c.240G>A

Pep_M12B_propep

Exome: 0.0% (AC=2, hom=0)Genome: n/a17 overlapping SVs

1 paper

chr8:24393294 G>C

NM_014479.3

p.M80I

c.240G>C

Pep_M12B_propep

exact variant not in gnomAD17 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."