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.H228N

c.682C>A

Surrounding Variants

1 paper

NM_002421.4

p.I232T

c.695T>C

1 paper

NM_002421.4

p.G233E

c.698G>A

1 paper

NM_002421.4

p.A234_L235insAA

c.700_704ins6

1 paper

NM_002421.4

p.A234D

c.701C>A

1 paper

NM_002421.4

p.L220delFs

c.658delG

2 papers

NM_002421.4

p.E219A

c.656A>C

1 paper

NM_002421.4

p.P238S

c.712C>T

4 papers

NM_001145938.2

p.A150A

c.450A>G

NM_002421.4

p.A216A

c.648A>G

1 paper

NM_002421.4

p.S239S

c.717C>T

1 paper

NM_002421.4

p.Y240C

c.719A>G

1 paper

NM_002421.4

p.T241I

c.722C>T

1 paper

NM_002421.4

p.F242I

c.724T>A