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

1 paper

NM_002424.3

p.K39delFs

c.117delC

Surrounding Variants

2 papers

NM_002424.3

p.K39fs

c.115_116fs

1 paper

NM_002424.3

p.K39delFs

c.116delT

1 paper

NM_002424.3

p.E38K

c.112G>A

2 papers

NM_002424.3

p.Q42P

c.125A>C

1 paper

NM_002424.3

p.S45R

c.133A>C

1 paper

NM_001304441.2

p.S22S

c.66C>T

1 paper

NM_002424.3

p.S45R

c.135C>G

1 paper

NM_002424.3

p.S45R

c.135C>A

2 papers

NM_002424.3

p.S50F

c.149C>T

1 paper

NM_002424.3

p.L63P

c.188T>C

5 papers

NM_002424.3

p.K64E

c.190A>G

1 paper

NM_002424.3

p.E65Q

c.193G>C