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.Q10K

c.28C>A

Surrounding Variants

1 paper

NM_002426.6

p.A11D

c.32C>A

1 paper

NM_002426.6

p.M1delins

c.3delinsG

1 paper

NM_002426.6

p.M1K

c.2T>A

1 paper

NM_002426.6

p.S22F

c.65C>T

3 papers

NM_002426.6

p.S24N

c.71G>A

5 papers

NM_002426.6

p.E26G

c.77A>G

73 papers

NM_002426.6

p.N28D

c.82A>G

1 paper

NM_002426.6

p.G33S

c.97G>A

1 paper

NM_002426.6

p.R35R

c.103A>C

1 paper

NM_002426.6

p.E38Q

c.112G>C

1 paper

NM_002426.6

p.K47K

c.141A>G

1 paper

NM_002426.6

p.M53I

c.159G>T