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.T76P

c.226A>C

Surrounding Variants

1 paper

NM_002421.4

p.K78_P79insFs

c.234_235insAA

1 paper

NM_002421.4

p.L73M

c.217C>A

1 paper

NM_002421.4

p.D80H

c.238G>C

3 papers

NM_002421.4

p.D80N

c.238G>A

1 paper

NM_002421.4

p.G58_F70del13

c.172_209del39

1 paper

NM_002421.4

p.T83N

c.248C>A

1 paper

NM_002421.4

p.P90L

c.269C>T

1 paper

NM_002421.4

p.P90H

c.269C>A

1 paper

NM_002421.4

p.R91K

c.272G>A

1 paper

NM_002421.4

p.G93G

c.279A>G

2 papers

NM_002421.4

p.V94G

c.281T>G

1 paper

NM_002421.4

p.D96N

c.286G>A