Varaico: Literature-Extracted Genetic Variants

MMP19

62 papers

RefSeq Summary

This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue...

Pfam Domains

PG_binding_1aa 29–80UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 103–256UCSCMatrixin

Hemopexinaa 294–335UCSCHemopexin

Hemopexinaa 337–378UCSCHemopexin

Hemopexinaa 380–427UCSCHemopexin

Hemopexinaa 429–472UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 19

HGNC Previous Symbol

MMP18

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002429.6

p.K444E

c.1330A>G

Surrounding Variants

1 paper

NM_002429.6

p.Y441*

c.1323C>G

1 paper

NM_002429.6

p.Y441*

c.1323C>A

1 paper

NM_002429.6

p.R439Q

c.1316G>A

1 paper

NM_002429.6

p.R456Q

c.1367G>A

1 paper

NM_002429.6

p.S430L

c.1289C>T

1 paper

NM_002429.6

p.P462H

c.1385C>A

2 papers

NM_002429.6

p.R408*

c.1222C>T

1 paper

NM_002429.6

p.A407V

c.1220C>T

2 papers

NM_002429.6

p.G484R

c.1450G>C

2 papers

NM_002429.6

p.G484R

c.1450G>A

1 paper

NM_002429.6

p.P488T

c.1462C>A

1 paper

NM_002429.6

p.S489L

c.1466C>T