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

1–12 of 58 variants

4 papers

NM_002429.6

p.Q5*

c.13C>T

2 papers

NM_002429.6

p.R58Splc

c.173+1G>A

2 papers

NM_002429.6

p.P288S

c.862C>T

2 papers

NM_002429.6

p.H350Y

c.1048C>T

2 papers

NM_002429.6

p.Y360C

c.1079A>G

2 papers

NM_002429.6

p.Y385*

c.1155T>A

2 papers

NM_002429.6

p.R408*

c.1222C>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.M1R

c.2T>G

1 paper

NM_002429.6

p.M1K

c.2T>A

1 paper

NM_002429.6

p.P28P

c.84T>C