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

Selected Variant

1 paper

NM_002427.4

p.L10H

c.29T>A

Surrounding Variants

1 paper

NM_002427.4

p.F11L

c.31T>C

1 paper

NM_002427.4

p.A8V

c.23C>T

1 paper

NM_002427.4

p.V5I

c.13G>A

1 paper

NM_002427.4

p.R18Q

c.53G>A

1 paper

NM_002427.4

p.H2Y

c.4C>T

2 papers

NM_002427.4

p.M1R

c.2T>G

6 papers

NM_002427.4

p.G26D

c.77G>A

1 paper

NM_002427.4

p.D27fs

c.79_80fs

1 paper

NM_002427.4

p.D30N

c.88G>A

1 paper

NM_002427.4

p.L31insFs

c.91_92insC

1 paper

NM_002427.4

p.E33K

c.97G>A

1 paper

NM_002427.4

p.E40_R41Splc

c.120+1G>T