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.E65Q

c.193G>C

Surrounding Variants

1 paper

NM_002424.3

p.E65D

c.195A>T

1 paper

NM_002424.3

p.E65D

c.195A>C

5 papers

NM_002424.3

p.K64E

c.190A>G

1 paper

NM_002424.3

p.L63P

c.188T>C

1 paper

NM_002424.3

p.R68*

c.202C>T

1 paper

NM_002424.3

p.F70insFs

c.210dupT

1 paper

NM_002424.3

p.G71fs

c.211_212fs

1 paper

NM_002424.3

p.N73D

c.217A>G

1 paper

NM_002424.3

p.P78S

c.232C>T

1 paper

NM_002424.3

p.P78P

c.234A>C

1 paper

NM_002424.3

p.P78_N79insFs

c.234_235insAA

2 papers

NM_002424.3

p.S50F

c.149C>T