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.K28E

c.82A>G

Surrounding Variants

1 paper

NM_002424.3

p.E27D

c.81G>T

1 paper

NM_002424.3

p.E27D

c.81G>C

2 papers

NM_002424.3

p.K26R

c.77A>G

1 paper

NM_002424.3

p.T30A

c.88A>G

1 paper

NM_002424.3

p.S25T

c.73T>A

12 papers

NM_002424.3

p.T32I

c.95C>T

1 paper

NM_002424.3

p.V23I

c.67G>A

1 paper

NM_002424.3

p.Q34*

c.100C>T

1 paper

NM_002424.3

p.K19M

c.56A>T

25 papers

NM_002424.3

p.T6R

c.17C>G

5 papers

NM_002424.3

p.S3C

c.8C>G

1 paper

NM_002424.3

p.F2L

c.6C>G