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

1 paper

NM_002428.4

p.H234_F235insAA

c.700_704ins6

Surrounding Variants

3 papers

NM_002428.4

p.G231R

c.691G>A

3 papers

NM_002428.4

p.G231R

c.691G>C

1 paper

NM_002428.4

p.P240S

c.718C>T

1 paper

NM_002428.4

p.A220A

c.660C>T

1 paper

NM_002428.4

p.D213G

c.638A>G

1 paper

NM_002428.4

p.P211Q

c.632C>A

1 paper

NM_002428.4

p.R191Q

c.572G>A

1 paper

NM_002428.4

p.R190R

c.570G>A

1 paper

NM_002428.4

p.R188delFs

c.563_564delGG

1 paper

NM_002428.4

p.P176P

c.528C>A

1 paper

NM_002428.4

p.R169R

c.507C>T

1 paper

NM_002428.4

p.Q149*

c.445C>T