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.S260T

c.778T>A

Surrounding Variants

1 paper

NM_002426.6

p.I245I

c.735C>T

1 paper

NM_002426.6

p.D244Y

c.730G>T

1 paper

NM_002426.6

p.P238S

c.712C>T

1 paper

NM_002426.6

p.A234_V235insAA

c.700_704ins6

1 paper

NM_002426.6

p.G227S

c.679G>A

5 papers

NM_002426.6

p.G225A

c.674G>C

2 papers

NM_002426.6

p.I220F

c.658A>T

2 papers

NM_002426.6

p.E219A

c.656A>C

3 papers

NM_002426.6

p.N211insFs

c.632_633insA

1 paper

NM_002426.6

p.C282Y

c.845G>A

1 paper

NM_002426.6

p.N285S

c.854A>G

1 paper

NM_002426.6

p.T293I

c.878C>T