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

2 papers

NM_002429.6

p.P288S

c.862C>T

Surrounding Variants

1 paper

NM_002429.6

p.P276T

c.826C>A

1 paper

NM_002429.6

p.R301fs

c.901_902fs

1 paper

NM_002429.6

p.F307L

c.919T>C

1 paper

NM_002429.6

p.F307L

c.921C>G

1 paper

NM_002429.6

p.F307L

c.921C>A

1 paper

NM_002429.6

p.V312M

c.934G>A

2 papers

NM_002429.6

p.H350Y

c.1048C>T

1 paper

NM_002429.6

p.A253A

c.759T>C

1 paper

NM_002429.6

p.P245S

c.733C>T

1 paper

NM_002429.6

p.R238W

c.712C>T

1 paper

NM_002429.6

p.Y234_E235insAA

c.700_704ins6

1 paper

NM_002429.6

p.V233V

c.699C>G