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.R79C

c.235C>T

Surrounding Variants

1 paper

NM_002429.6

p.A78_R79insFs

c.234_235insAA

1 paper

NM_002429.6

p.P83L

c.248C>T

1 paper

NM_002429.6

p.G150C

c.448G>T

1 paper

NM_002429.6

p.R161C

c.481C>T

1 paper

NM_002429.6

p.Q162Q

c.486A>G

1 paper

NM_002429.6

p.C166S

c.496T>A

1 paper

NM_002429.6

p.C166S

c.497G>C

1 paper

NM_002429.6

p.C166Y

c.497G>A

1 paper

NM_002429.6

p.T169I

c.506C>T

2 papers

NM_002429.6

p.R58Splc

c.173+1G>A

1 paper

NM_002429.6

p.P50P

c.150A>G

1 paper

NM_002429.6

p.Y37_L38insFs

c.111_112insA