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.F178L

c.532T>C

Surrounding Variants

1 paper

NM_002427.4

p.F178L

c.534T>G

1 paper

NM_002427.4

p.F178L

c.534T>A

1 paper

NM_002427.4

p.D179Y

c.535G>T

1 paper

NM_002427.4

p.Y176*

c.528C>A

1 paper

NM_002427.4

p.E171Splc

c.512-4G>A

1 paper

NM_002427.4

p.Y195C

c.584A>G

1 paper

NM_002427.4

p.D204Y

c.610G>T

6 papers

NM_002427.4

p.W207G

c.619T>G

1 paper

NM_002427.4

p.S211F

c.632C>T

1 paper

NM_002427.4

p.K212E

c.634A>G

1 paper

NM_002427.4

p.G213S

c.637G>A

1 paper

NM_002427.4

p.E171Splc

c.511+17A>C