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

2 papers

NM_002426.6

p.K61E

c.181A>G

Surrounding Variants

1 paper

NM_002426.6

p.M60ins8

c.178_179ins24

2 papers

NM_002426.6

p.Q68*

c.202C>T

1 paper

NM_002426.6

p.M53I

c.159G>T

1 paper

NM_002426.6

p.M53I

c.159G>C

1 paper

NM_002426.6

p.M53I

c.159G>A

1 paper

NM_002426.6

p.G72C

c.214G>T

1 paper

NM_002426.6

p.K47K

c.141A>G

1 paper

NM_002426.6

p.G77R

c.229G>C

1 paper

NM_002426.6

p.G77R

c.229G>A

2 papers

NM_002426.6

p.T76delFs

c.227delG

1 paper

NM_002426.6

p.Q78_L79insFs

c.234_235insAA

1 paper

NM_002426.6

p.L79L

c.237G>A