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.D433E

c.1299T>G

Surrounding Variants

1 paper

NM_002421.4

p.D433D

c.1299T>C

1 paper

NM_002421.4

p.D433E

c.1299T>A

1 paper

NM_002421.4

p.D433A

c.1298A>C

1 paper

NM_002421.4

p.M431I

c.1293G>C

1 paper

NM_002421.4

p.D427H

c.1279G>C

1 paper

NM_002421.4

p.M414V

c.1240A>G

1 paper

NM_002421.4

p.D408fs

c.1222_1223fs

1 paper

NM_002421.4

p.D408delFs

c.1222delC

1 paper

NM_002421.4

p.R405Q

c.1214G>A

2 papers

NM_002421.4

p.R405*

c.1213C>T

1 paper

NM_002421.4

p.G434V

c.1301G>T

1 paper

NM_002421.4

p.T451M

c.1352C>T