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.M170V

c.508A>G

Surrounding Variants

1 paper

NM_004530.6

p.D168V

c.503A>T

1 paper

NM_004530.6

p.A167V

c.500C>T

1 paper

NM_004530.6

p.A167T

c.499G>A

3 papers

NM_004530.6

p.E166K

c.496G>A

1 paper

NM_004530.6

p.G174S

c.520G>A

2 papers

NM_004530.6

p.G174G

c.522C>T

1 paper

NM_004530.6

p.R175H

c.524G>A

2 papers

NM_004530.6

p.W176C

c.528G>C

3 papers

NM_004530.6

p.E177K

c.529G>A

1 paper

NM_004530.6

p.R161Q

c.482G>A

1 paper

NM_004530.6

p.P156insFs

c.466_467insAC

1 paper

NM_004530.6

p.D153V

c.458A>T