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

1–12 of 118 variants

56 papers

NM_002424.3

p.P267S

c.799C>T

25 papers

NM_002424.3

p.T6R

c.17C>G

21 papers

NM_002424.3

p.K87E

c.259A>G

20 papers

NM_002424.3

p.K460T

c.1379A>C

16 papers

NM_002424.3

p.V436A

c.1307T>C

12 papers

NM_002424.3

p.T32I

c.95C>T

6 papers

NM_002424.3

p.Q450*

c.1348C>T

5 papers

NM_002424.3

p.S3C

c.8C>G

5 papers

NM_002424.3

p.K64E

c.190A>G

3 papers

NM_002424.3

p.G104R

c.310G>C

3 papers

NM_002424.3

p.R118Q

c.353G>A

3 papers

NM_002424.3

p.E200A

c.599A>C