Varaico: Literature-Extracted Genetic Variants

MMP1

414 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 27–87UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 108–261UCSCMatrixin

Hemopexinaa 284–326UCSCHemopexin

Hemopexinaa 328–372UCSCHemopexin

Hemopexinaa 377–424UCSCHemopexin

Hemopexinaa 426–466UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 1

HGNC Previous Symbol

CLG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002421.4

p.I134T

c.401T>C

Surrounding Variants

1 paper

NM_002421.4

p.E135K

c.403G>A

1 paper

NM_002421.4

p.F138I

c.412T>A

1 paper

NM_002421.4

p.L140L

c.420C>G

2 papers

NM_002421.4

p.P126A

c.376C>G

1 paper

NM_002421.4

p.L125delFs

c.375delC

1 paper

NM_002421.4

p.D124_L125del2

c.370_374del6

1 paper

NM_002421.4

p.L125delFs

c.374delA

2 papers

NM_002421.4

p.D124D

c.372T>C

1 paper

NM_002421.4

p.T145I

c.434C>T

1 paper

NM_002421.4

p.V152A

c.455T>C

1 paper

NM_002421.4

p.E154K

c.460G>A

1 paper

NM_002421.4

p.V152_S153del0

c.454_459del6