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.R127Splc

c.381-1G>C

Surrounding Variants

1 paper

NM_004530.6

p.R127R

c.381G>A

1 paper

NM_004530.6

p.I128L

c.382A>C

1 paper

NM_004530.6

p.I128T

c.383T>C

1 paper

NM_004530.6

p.G130S

c.388G>A

1 paper

NM_004530.6

p.D134delFs

c.400delG

1 paper

NM_004530.6

p.P137T

c.409C>A

1 paper

NM_004530.6

p.T139A

c.415A>G

1 paper

NM_004530.6

p.T139delFs

c.416delC

1 paper

NM_004530.6

p.V140M

c.418G>A

17 papers

NM_004530.6

p.V140L

c.418G>C

1 paper

NM_004530.6

p.D141V

c.422A>T

1 paper

NM_004530.6

p.D142_A143delFs

c.424_427del4