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

4 papers

NM_002421.4

p.S280N

c.839G>A

Surrounding Variants

2 papers

NM_002421.4

p.D279G

c.836A>G

1 paper

NM_002421.4

p.K276I

c.827A>T

2 papers

NM_002421.4

p.A286V

c.857C>T

1 paper

NM_002421.4

p.A286D

c.857C>A

1 paper

NM_002421.4

p.P272P

c.816A>C

2 papers

NM_002421.4

p.T288N

c.863C>A

2 papers

NM_002421.4

p.T289S

c.865A>T

1 paper

NM_002421.4

p.I290T

c.869T>C

1 paper

NM_002421.4

p.G292*

c.874G>T

1 paper

NM_002421.4

p.N265insFs

c.794dupA

1 paper

NM_002421.4

p.R262R

c.786T>C

1 paper

NM_002421.4

p.D299G

c.896A>G