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.R7L

c.20G>T

Surrounding Variants

1 paper

NM_004530.6

p.G8R

c.22G>C

1 paper

NM_004530.6

p.G8G

c.24C>T

1 paper

NM_004530.6

p.A6fs

c.16_17fs

1 paper

NM_004530.6

p.M5I

c.15G>A

1 paper

NM_004530.6

p.L10H

c.29T>A

2 papers

NM_004530.6

p.T11K

c.32C>A

1 paper

NM_004530.6

p.A3E

c.8C>A

2 papers

NM_004530.6

p.G12S

c.34G>A

1 paper

NM_004530.6

p.E2E

c.6G>A

1 paper

NM_004530.6

p.G12R

c.34G>C

3 papers

NM_004530.6

p.G12D

c.35G>A

1 paper

NM_004530.6

p.G12G

c.36T>G