Varaico: Literature-Extracted Genetic Variants

MMP2

901 papers

RefSeq Summary

This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal tra...

Pfam Domains

PG_binding_1aa 69–97UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 118–272UCSCMatrixin

fn2aa 233–274UCSCFibronectin type II domain

Gene Aliases

HGNC Name

matrix metallopeptidase 2

HGNC Previous Symbols

CLG4; CLG4A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004530.6

p.A228V

c.683C>T

Surrounding Variants

1 paper

NM_004530.6

p.A228insFs

c.683_684insG

1 paper

NM_004530.6

p.A228A

c.684C>A

1 paper

NM_004530.6

p.A228_D229insFs

c.684_685insG

1 paper

NM_004530.6

p.D229A

c.686A>C

2 papers

NM_004530.6

p.G226G

c.678G>C

2 papers

NM_004530.6

p.E231*

c.691G>T

1 paper

NM_004530.6

p.E231A

c.692A>C

2 papers

NM_004530.6

p.K224E

c.670A>G

1 paper

NM_004530.6

p.V223V

c.669G>A

1 paper

NM_004530.6

p.C233C

c.699C>T

1 paper

NM_004530.6

p.K234_F235insAA

c.700_704ins6

2 papers

NM_004530.6

p.R222H

c.665G>A