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

1–12 of 170 variants

7 papers

NM_002421.4

p.L114L

c.340C>T

4 papers

NM_002421.4

p.S3S

c.9C>T

4 papers

NM_002421.4

p.S280N

c.839G>A

4 papers

NM_002421.4

p.W463*

c.1388G>A

4 papers

NM_002421.4

p.W463*

c.1389G>A

3 papers

NM_002421.4

p.Q27E

c.79C>G

3 papers

NM_002421.4

p.Q35_K36Splc

c.105+2T>C

3 papers

NM_002421.4

p.D80N

c.238G>A

3 papers

NM_002421.4

p.P107L

c.320C>T

3 papers

NM_002421.4

p.G166insFs

c.497_498insA

3 papers

NM_002421.4

p.A216A

c.648A>G

2 papers

NM_002421.4

p.M1K

c.2T>A