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.N430delFs

c.1289delA

Surrounding Variants

1 paper

NM_004530.6

p.K429K

c.1287G>A

2 papers

NM_004530.6

p.K429N

c.1287G>C

2 papers

NM_004530.6

p.K429N

c.1287G>T

1 paper

NM_004530.6

p.N430fs

c.1288_1289fs

5 papers

NM_004530.6

p.N430fs

c.1288_1289fs

3 papers

NM_004530.6

p.K429delFs

c.1287delG

1 paper

NM_004530.6

p.K429_I438del0

c.1285_1314del30

1 paper

NM_004530.6

p.F431L

c.1291T>C

1 paper

NM_004530.6

p.R432delFs

c.1294delC

1 paper

NM_004530.6

p.F431L

c.1293C>A

1 paper

NM_004530.6

p.F431L

c.1293C>G

1 paper

NM_004530.6

p.R432fs

c.1294_1295fs