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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMP7

MMP7

197 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological proces...

Pfam Domains

PG_binding_1aa 28–82UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 103–259UCSCMatrixin

Gene Aliases

HGNC Name

matrix metallopeptidase 7

HGNC Previous Symbol

MPSL1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 78 variants

12 papers

chr11:102525007 G>C

NM_002423.5

p.A181G

c.542C>G

Peptidase_M10

exact variant not in gnomAD24 overlapping SVs

5 papers

chr11:102527911 C>T

NM_002423.5

p.E61K

c.181G>A

PG_binding_1

exact variant not in gnomAD25 overlapping SVs

3 papers

chr11:102530680 A>C

NM_002423.5

p.C7W

c.21T>G

Exome: 1.7% (AC=25377, hom=253)Genome: 1.2% (AC=1841, hom=16)25 overlapping SVs

3 papers

chr11:102527862 C>T

NM_002423.5

p.R77H

c.230G>A

PG_binding_1

Exome: 21.1% (AC=307798, hom=34498)Genome: 16.4% (AC=24962, hom=2529)25 overlapping SVs

2 papers

chr11:102530692 G>A

NM_002423.5

p.L3L

c.9C>T

Exome: 0.0% (AC=25, hom=0)Genome: n/a25 overlapping SVs

2 papers

chr11:102530619 T>C

NM_002423.5

p.S28G

c.82A>G

PG_binding_1

exact variant not in gnomAD25 overlapping SVs

2 papers

chr11:102527939 A>G

NM_002423.5

p.N51N

c.153T>C

PG_binding_1

exact variant not in gnomAD25 overlapping SVs

2 papers

chr11:102527598 C>T

NM_002423.5

p.G137D

c.410G>A

Peptidase_M10

Exome: 0.3% (AC=5105, hom=242)Genome: 0.4% (AC=637, hom=24)25 overlapping SVs

2 papers

chr11:102523393 A>T

NM_002423.5

p.F208I

c.622T>A

Peptidase_M10

exact variant not in gnomAD25 overlapping SVs

2 papers

chr11:102523381 C>G

NM_002423.5

p.A212P

c.634G>C

Peptidase_M10

exact variant not in gnomAD25 overlapping SVs

1 paper

chr11:102530699 A>G

NM_002423.5

p.M1T

c.2T>C

exact variant not in gnomAD25 overlapping SVs

1 paper

chr11:102530699 A>T

NM_002423.5

p.M1K

c.2T>A

exact variant not in gnomAD25 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."