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

11 papers

NM_004530.6

p.E404K

c.1210G>A

Surrounding Variants

7 papers

NM_004530.6

p.G406D

c.1217G>A

1 paper

NM_004530.6

p.G406delFs

c.1218delC

1 paper

NM_004530.6

p.G406G

c.1218C>T

1 paper

NM_004530.6

p.V400M

c.1198G>A

1 paper

NM_004530.6

p.V400L

c.1198G>C

1 paper

NM_004530.6

p.V400L

c.1198G>T

1 paper

NM_004530.6

p.V400fs

c.1198_1199fs

8 papers

NM_004530.6

p.V400del1

c.1198_1199delGTG

5 papers

NM_004530.6

p.G410R

c.1228G>A

5 papers

NM_004530.6

p.G410R

c.1228G>C

1 paper

NM_004530.6

p.G410E

c.1229G>A

4 papers

NM_004530.6

p.G410V

c.1229G>T