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

4 papers

NM_004530.6

p.A42T

c.124G>A

Surrounding Variants

1 paper

NM_004530.6

p.A42S

c.124G>T

1 paper

NM_004530.6

p.P43A

c.127C>G

1 paper

NM_004530.6

p.P43R

c.128C>G

1 paper

NM_004530.6

p.D40_A42del0

c.120_125del6

2 papers

NM_004530.6

p.D40N

c.118G>A

1 paper

NM_004530.6

p.T45A

c.133A>G

1 paper

NM_004530.6

p.G39S

c.115G>A

1 paper

NM_004530.6

p.P38H

c.113C>A

2 papers

NM_004530.6

p.P38L

c.113C>T

1 paper

NM_004530.6

p.T45T

c.135G>T

1 paper

NM_004530.6

p.P38S

c.112C>T

1 paper

NM_004530.6

p.F37F

c.111C>T