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

73 papers

NM_002426.6

p.N28D

c.82A>G

Surrounding Variants

5 papers

NM_002426.6

p.E26G

c.77A>G

3 papers

NM_002426.6

p.S24N

c.71G>A

1 paper

NM_002426.6

p.G33S

c.97G>A

1 paper

NM_002426.6

p.S22F

c.65C>T

1 paper

NM_002426.6

p.A11D

c.32C>A

1 paper

NM_002426.6

p.Q10K

c.28C>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.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