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.W151*

c.453G>A

Surrounding Variants

4 papers

NM_004530.6

p.W151*

c.452G>A

2 papers

NM_004530.6

p.S152N

c.455G>A

1 paper

NM_004530.6

p.D153N

c.457G>A

1 paper

NM_004530.6

p.D153V

c.458A>T

1 paper

NM_004530.6

p.Q149R

c.446A>G

1 paper

NM_004530.6

p.Q149*

c.445C>T

1 paper

NM_004530.6

p.F148S

c.443T>C

1 paper

NM_004530.6

p.P156insFs

c.466_467insAC

1 paper

NM_004530.6

p.A145V

c.434C>T

1 paper

NM_004530.6

p.F144V

c.430T>G

2 papers

NM_004530.6

p.A143A

c.429C>T

1 paper

NM_004530.6

p.R161Q

c.482G>A