Varaico: Literature-Extracted Genetic Variants

MMP13

171 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological proces...

Pfam Domains

PG_binding_1aa 32–91UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 112–267UCSCMatrixin

Hemopexinaa 290–332UCSCHemopexin

Hemopexinaa 334–377UCSCHemopexin

Hemopexinaa 382–429UCSCHemopexin

Hemopexinaa 431–471UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 13

HGNC Alias Symbol

CLG3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 108 variants

6 papers

NM_002427.4

p.G26D

c.77G>A

6 papers

NM_002427.4

p.W207G

c.619T>G

4 papers

NM_002427.4

p.M91T

c.272T>C

2 papers

NM_002427.4

p.M1R

c.2T>G

2 papers

NM_002427.4

p.M71T

c.212T>C

2 papers

NM_002427.4

p.F74S

c.221T>C

2 papers

NM_002427.4

p.F75L

c.223T>C

2 papers

NM_002427.4

p.F75S

c.224T>C

2 papers

NM_002427.4

p.F75L

c.225C>G

2 papers

NM_002427.4

p.F75L

c.225C>A

2 papers

NM_002427.4

p.R109*

c.325C>T

2 papers

NM_002427.4

p.H232N

c.694C>A