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

1 paper

NM_002421.4

p.M1V

c.1A>G

Surrounding Variants

1 paper

NM_002421.4

p.M1R

c.2T>G

2 papers

NM_002421.4

p.M1K

c.2T>A

1 paper

NM_002421.4

p.M1insFs

c.2dupT

1 paper

NM_002421.4

p.H2N

c.4C>A

4 papers

NM_002421.4

p.S3S

c.9C>T

1 paper

NM_002421.4

p.P5S

c.13C>T

1 paper

NM_002421.4

p.P6R

c.17C>G

1 paper

NM_002421.4

p.L7P

c.20T>C

1 paper

NM_002421.4

p.L10V

c.28C>G

1 paper

NM_002421.4

p.L9delFs

c.27delC

1 paper

NM_002421.4

p.L10P

c.29T>C

1 paper

NM_002421.4

p.L10fs

c.28_29fs