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.T205N

c.614C>A

Surrounding Variants

1 paper

NM_002424.3

p.S206Y

c.617C>A

3 papers

NM_002424.3

p.E200A

c.599A>C

2 papers

NM_002424.3

p.G189D

c.566G>A

1 paper

NM_002424.3

p.Q188delFs

c.563_564delTT

1 paper

NM_002424.3

p.F184Y

c.551T>A

1 paper

NM_002424.3

p.P176P

c.528C>A

1 paper

NM_002424.3

p.P176R

c.527C>G

1 paper

NM_002424.3

p.G154*

c.460G>T

1 paper

NM_002424.3

p.A143A

c.429A>G

1 paper

NM_002424.3

p.L139F

c.415C>T

1 paper

NM_002424.3

p.E138Q

c.412G>C

1 paper

NM_002424.3

p.A136V

c.407C>T