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

1–12 of 58 variants

4 papers

NM_002428.4

p.P353delFs

c.1058delC

4 papers

NM_002428.4

p.G609R

c.1825G>A

4 papers

NM_002428.4

p.G609R

c.1825G>C

3 papers

NM_002428.4

p.G231R

c.691G>A

3 papers

NM_002428.4

p.G231R

c.691G>C

2 papers

NM_002428.4

p.S81L

c.242C>T

2 papers

NM_002428.4

p.N274S

c.821A>G

2 papers

NM_002428.4

p.P353fs

c.1057_1058fs

2 papers

NM_002428.4

p.E360K

c.1078G>A

2 papers

NM_002428.4

p.D596G

c.1787A>G

1 paper

NM_002428.4

p.Y62*

c.186C>A

1 paper

NM_002428.4

p.Y62*

c.186C>G