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.P353delFs

c.1058delC

Surrounding Variants

1 paper

NM_002428.4

p.P350insFs

c.1050dupG

1 paper

NM_002428.4

p.P350fs

c.1048_1049fs

1 paper

NM_002428.4

p.P353fs

c.1057_1058fs

2 papers

NM_002428.4

p.P353fs

c.1057_1058fs

2 papers

NM_002428.4

p.E360K

c.1078G>A

1 paper

NM_002428.4

p.R361W

c.1081C>T

1 paper

NM_002428.4

p.P335S

c.1003C>T

1 paper

NM_002428.4

p.F374C

c.1121T>G

1 paper

NM_002428.4

p.V377G

c.1130T>G

1 paper

NM_002428.4

p.L380R

c.1139T>G

1 paper

NM_002428.4

p.P312fs

c.934_935fs

1 paper

NM_002428.4

p.P312_T320delFs

c.934_959del26