Varaico: Literature-Extracted Genetic Variants

MMP15

66 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in...

Pfam Domains

PG_binding_1aa 50–106UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 138–304UCSCMatrixin

Hemopexinaa 374–417UCSCHemopexin

Hemopexinaa 419–463UCSCHemopexin

Hemopexinaa 466–512UCSCHemopexin

Hemopexinaa 514–559UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 15

HGNC Alias Symbols

MT2-MMP; MTMMP2; SMCP-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002428.4

p.G609R

c.1825G>C

Surrounding Variants

4 papers

NM_002428.4

p.G609R

c.1825G>A

1 paper

NM_002428.4

p.A603A

c.1809C>T

2 papers

NM_002428.4

p.D596G

c.1787A>G

1 paper

NM_002428.4

p.H580P

c.1739A>C

1 paper

NM_002428.4

p.V563M

c.1687G>A

1 paper

NM_002428.4

p.V563_E564del2

c.1687_1691del6

1 paper

NM_002428.4

p.C559_H562del4

c.1675_1685del12

1 paper

NM_002428.4

p.K550fs

c.1648_1649fs

1 paper

NM_002428.4

p.R543W

c.1627C>T

1 paper

NM_002428.4

p.R429S

c.1285C>A

1 paper

NM_002428.4

p.E424K

c.1270G>A

1 paper

NM_002428.4

p.S420S

c.1260T>C