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.R69*

c.205C>T

Surrounding Variants

1 paper

NM_002427.4

p.E70K

c.208G>A

1 paper

NM_002427.4

p.E70D

c.210A>T

2 papers

NM_002427.4

p.M71T

c.212T>C

1 paper

NM_002427.4

p.Q72H

c.216G>T

1 paper

NM_002427.4

p.Q72H

c.216G>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

1 paper

NM_002427.4

p.E78_V79insFs

c.234_235insAA

1 paper

NM_002427.4

p.E58D

c.174G>C