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

7 papers

NM_004530.6

p.V220Splc

c.658+2T>C

Surrounding Variants

1 paper

NM_004530.6

p.V220Splc

c.658+3G>T

1 paper

NM_004530.6

p.Q219P

c.656A>C

1 paper

NM_004530.6

p.Q219delFs

c.656delA

1 paper

NM_004530.6

p.G218D

c.653G>A

1 paper

NM_004530.6

p.E217D

c.651A>C

1 paper

NM_004530.6

p.E217D

c.651A>T

1 paper

NM_004530.6

p.E217K

c.649G>A

1 paper

NM_004530.6

p.L212L

c.636A>G

1 paper

NM_004530.6

p.E211Q

c.631G>C

1 paper

NM_004530.6

p.E211*

c.631G>T

2 papers

NM_004530.6

p.D210Y

c.628G>T

1 paper

NM_004530.6

p.G203R

c.607G>A