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

2 papers

NM_002428.4

p.S81L

c.242C>T

Surrounding Variants

1 paper

NM_002428.4

p.S81S

c.243G>A

1 paper

NM_002428.4

p.I78_L79insFs

c.234_235insAA

1 paper

NM_002428.4

p.E85Q

c.253G>C

1 paper

NM_002428.4

p.Q65E

c.193C>G

1 paper

NM_002428.4

p.L63P

c.188T>C

1 paper

NM_002428.4

p.Y62*

c.186C>A

1 paper

NM_002428.4

p.Y62*

c.186C>G

1 paper

NM_002428.4

p.E100K

c.298G>A

1 paper

NM_002428.4

p.D115N

c.343G>A

1 paper

NM_002428.4

p.V119A

c.356T>C

1 paper

NM_002428.4

p.A133D

c.398C>A

1 paper

NM_002428.4

p.G136R

c.406G>A