Varaico: Literature-Extracted Genetic Variants

MMP8

223 papers

RefSeq Summary

This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and ti...

Pfam Domains

PG_binding_1aa 26–86UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 107–262UCSCMatrixin

Hemopexinaa 285–327UCSCHemopexin

Hemopexinaa 329–372UCSCHemopexin

Hemopexinaa 377–422UCSCHemopexin

Hemopexinaa 424–464UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 8

HGNC Previous Symbol

CLG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

56 papers

NM_002424.3

p.P267S

c.799C>T

Surrounding Variants

1 paper

NM_002424.3

p.N266D

c.796A>G

1 paper

NM_002424.3

p.S265S

c.795C>T

1 paper

NM_002424.3

p.I268I

c.804C>T

1 paper

NM_002424.3

p.Q269E

c.805C>G

2 papers

NM_002424.3

p.S264A

c.790T>G

1 paper

NM_002424.3

p.G272V

c.815G>T

1 paper

NM_002424.3

p.T284S

c.850A>T

1 paper

NM_002424.3

p.T289S

c.865A>T

1 paper

NM_002424.3

p.T289S

c.866C>G

2 papers

NM_002424.3

p.L291L

c.873C>T

1 paper

NM_002424.3

p.R292C

c.874C>T

1 paper

NM_002424.3

p.R292L

c.875G>T