Varaico: Literature-Extracted Genetic Variants

MMP9

922 papers

RefSeq Summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue r...

Pfam Domains

Peptidase_M10aa 115–249UCSCMatrixin

fn2aa 230–271UCSCFibronectin type II domain

fn2aa 288–329UCSCFibronectin type II domain

fn2aa 347–388UCSCFibronectin type II domain

Peptidase_M10aa 370–444UCSCMatrixin

Hemopexinaa 521–565UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 9

HGNC Previous Symbol

CLG4B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004994.3

p.W588*

c.1763G>A

Surrounding Variants

2 papers

NM_004994.3

p.W588*

c.1764G>A

1 paper

NM_004994.3

p.V589E

c.1766T>A

3 papers

NM_004994.3

p.T591I

c.1772C>T

1 paper

NM_004994.3

p.G597D

c.1790G>A

1 paper

NM_004994.3

p.L604Q

c.1811T>A

3 papers

NM_004994.3

p.G607G

c.1821A>C

1 paper

NM_004994.3

p.A608fs

c.1822_1823fs

1 paper

NM_004994.3

p.T614T

c.1842C>G

1 paper

NM_004994.3

p.G615W

c.1843G>T

1 paper

NM_004994.3

p.G620G

c.1860C>T

3 papers

NM_004994.3

p.R621K

c.1862G>A

1 paper

NM_004994.3

p.R621S

c.1863G>C