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.P499delFs

c.1495delC

Surrounding Variants

1 paper

NM_004530.6

p.T498M

c.1493C>T

2 papers

NM_004530.6

p.R500H

c.1499G>A

1 paper

NM_004530.6

p.R495Q

c.1484G>A

2 papers

NM_004530.6

p.R495W

c.1483C>T

1 paper

NM_004530.6

p.F512insFs

c.1534dupT

1 paper

NM_004530.6

p.L516L

c.1548C>T

1 paper

NM_004530.6

p.E518K

c.1552G>A

1 paper

NM_004530.6

p.I520delFs

c.1560delT

1 paper

NM_004530.6

p.I520T

c.1559T>C

1 paper

NM_004530.6

p.A522V

c.1565C>T

3 papers

NM_004530.6

p.Y524insFs

c.1571_1572insC

1 paper

NM_004530.6

p.E525K

c.1573G>A