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

16 papers

NM_002424.3

p.V436A

c.1307T>C

Surrounding Variants

1 paper

NM_002424.3

p.V436V

c.1308C>T

1 paper

NM_002424.3

p.A444S

c.1330G>T

6 papers

NM_002424.3

p.Q450*

c.1348C>T

20 papers

NM_002424.3

p.K460T

c.1379A>C

1 paper

NM_002424.3

p.D425H

c.1273G>C

1 paper

NM_002424.3

p.I413T

c.1238T>C

1 paper

NM_002424.3

p.K411E

c.1231A>G

1 paper

NM_002424.3

p.F404L

c.1212C>A

1 paper

NM_002424.3

p.D399N

c.1195G>A

1 paper

NM_002424.3

p.R397R

c.1189A>C

1 paper

NM_002424.3

p.Q394*

c.1180C>T

1 paper

NM_002424.3

p.S372S

c.1116C>T