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.V188delFs

c.563_564delCA

Surrounding Variants

1 paper

NM_002429.6

p.S187_V188delFs

c.559_562del4

1 paper

NM_002429.6

p.D191G

c.572A>G

1 paper

NM_002429.6

p.H179delFs

c.535delG

1 paper

NM_002429.6

p.V176V

c.528C>T

1 paper

NM_002429.6

p.V176V

c.528C>A

1 paper

NM_002429.6

p.R202C

c.604C>T

1 paper

NM_002429.6

p.E213A

c.638A>C

1 paper

NM_002429.6

p.P232L

c.695C>T

1 paper

NM_002429.6

p.V233V

c.699C>G

1 paper

NM_002429.6

p.Y234_E235insAA

c.700_704ins6

1 paper

NM_002429.6

p.R238W

c.712C>T

1 paper

NM_002429.6

p.P245S

c.733C>T