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

3 papers

NM_002421.4

p.Q35_K36Splc

c.105+2T>C

Surrounding Variants

1 paper

NM_002421.4

p.V34F

c.100G>T

2 papers

NM_002421.4

p.L33*

c.98T>G

1 paper

NM_002421.4

p.D30N

c.88G>A

1 paper

NM_002421.4

p.Q29P

c.86A>C

2 papers

NM_002421.4

p.Q27*

c.79C>T

3 papers

NM_002421.4

p.Q27E

c.79C>G

1 paper

NM_002421.4

p.F20_L24delFs

c.58_70del13

1 paper

NM_002421.4

p.L24V

c.70C>G

1 paper

NM_002421.4

p.F20F

c.60C>T

1 paper

NM_002421.4

p.V15L

c.43G>T

1 paper

NM_002421.4

p.V15L

c.43G>C

1 paper

NM_002421.4

p.G14V

c.41G>T