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

2 papers

NM_002427.4

p.R109*

c.325C>T

Surrounding Variants

1 paper

NM_002427.4

p.R109Q

c.326G>A

1 paper

NM_002427.4

p.W113S

c.338G>C

1 paper

NM_002427.4

p.D100D

c.300T>C

1 paper

NM_002427.4

p.D100E

c.300T>A

1 paper

NM_002427.4

p.R121K

c.362G>A

1 paper

NM_002427.4

p.R95T

c.284G>C

4 papers

NM_002427.4

p.M91T

c.272T>C

1 paper

NM_002427.4

p.D89H

c.265G>C

1 paper

NM_002427.4

p.L83L

c.249T>C

1 paper

NM_002427.4

p.E78_V79insFs

c.234_235insAA

2 papers

NM_002427.4

p.F75L

c.225C>G

2 papers

NM_002427.4

p.F75L

c.225C>A