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

1–12 of 415 variants

134 papers

NM_004530.6

p.N245N

c.735C>T

60 papers

NM_004530.6

p.E525E

c.1575G>A

18 papers

NM_004530.6

p.R101H

c.302G>A

17 papers

NM_004530.6

p.V140L

c.418G>C

15 papers

NM_004530.6

p.Y244*

c.732C>A

14 papers

NM_004530.6

p.Y244*

c.732C>G

11 papers

NM_004530.6

p.E404K

c.1210G>A

9 papers

NM_004530.6

p.R101C

c.301C>T

8 papers

NM_004530.6

p.V400del1

c.1198_1199delGTG

7 papers

NM_004530.6

p.V220Splc

c.658+2T>C

7 papers

NM_004530.6

p.G406D

c.1217G>A

6 papers

NM_004530.6

p.D180N

c.538G>A