Varaico: Literature-Extracted Genetic Variants

MMP12

232 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 26–87UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 108–263UCSCMatrixin

Hemopexinaa 288–330UCSCHemopexin

Hemopexinaa 332–375UCSCHemopexin

Hemopexinaa 380–427UCSCHemopexin

Hemopexinaa 429–470UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 12

HGNC Alias Symbol

HME

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002426.6

p.A133E

c.398C>A

Surrounding Variants

1 paper

NM_002426.6

p.D124D

c.372C>T

2 papers

NM_002426.6

p.M156delFs

c.467delA

1 paper

NM_002426.6

p.L160F

c.480G>C

1 paper

NM_002426.6

p.I159delFs

c.476delA

1 paper

NM_002426.6

p.F163fs

c.487_488fs

2 papers

NM_002426.6

p.F171delFs

c.511delA

1 paper

NM_002426.6

p.A173G

c.518C>G

1 paper

NM_002426.6

p.G176G

c.528C>A

1 paper

NM_002426.6

p.K177fs

c.529_530fs

1 paper

NM_002426.6

p.K177delFs

c.531delT

2 papers

NM_002426.6

p.G179fs

c.535_536fs

1 paper

NM_002426.6

p.E199A

c.596A>C