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.H232Q

c.696C>A

Surrounding Variants

1 paper

NM_002427.4

p.H232Q

c.696C>G

2 papers

NM_002427.4

p.H232N

c.694C>A

1 paper

NM_002427.4

p.K234_D235insAA

c.700_704ins6

1 paper

NM_002427.4

p.D235G

c.704A>G

1 paper

NM_002427.4

p.A220V

c.659C>T

1 paper

NM_002427.4

p.A220P

c.658G>C

2 papers

NM_002427.4

p.T245T

c.735C>T

1 paper

NM_002427.4

p.G248S

c.742G>A

1 paper

NM_002427.4

p.H251H

c.753C>T

1 paper

NM_002427.4

p.D258insFs

c.772_773insG

2 papers

NM_002427.4

p.S264A

c.790T>G

1 paper

NM_002427.4

p.Y266C

c.797A>G