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.N375S

c.1124A>G

Surrounding Variants

1 paper

NM_002426.6

p.V384A

c.1151T>C

1 paper

NM_002426.6

p.F389V

c.1165T>G

24 papers

NM_002426.6

p.E361G

c.1082A>G

24 papers

NM_002426.6

p.N357S

c.1070A>G

1 paper

NM_002426.6

p.N357T

c.1070A>C

1 paper

NM_002426.6

p.A340V

c.1019C>T

1 paper

NM_002426.6

p.P314_K315insFs

c.942_943insT

1 paper

NM_002426.6

p.T293I

c.878C>T

1 paper

NM_002426.6

p.N285S

c.854A>G

1 paper

NM_002426.6

p.C282Y

c.845G>A

1 paper

NM_002426.6

p.G424R

c.1270G>C

1 paper

NM_002426.6

p.G424R

c.1270G>A