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

134 papers

NM_004530.6

p.N245N

c.735C>T

Surrounding Variants

2 papers

NM_004530.6

p.N245insFs

c.734_735ins4

15 papers

NM_004530.6

p.Y244*

c.732C>A

14 papers

NM_004530.6

p.Y244*

c.732C>G

1 paper

NM_004530.6

p.T248A

c.742A>G

1 paper

NM_004530.6

p.T248delFs

c.743delC

1 paper

NM_004530.6

p.T248fs

c.742_743fs

2 papers

NM_004530.6

p.E243K

c.727G>A

1 paper

NM_004530.6

p.E243fs

c.727_728fs

2 papers

NM_004530.6

p.D249insFs

c.745_746insT

2 papers

NM_004530.6

p.T250T

c.750C>T

1 paper

NM_004530.6

p.G251S

c.751G>A

1 paper

NM_004530.6

p.G251A

c.752G>C