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.D188delFs

c.563_564delAC

Surrounding Variants

1 paper

NM_004530.6

p.K187_D188delFs

c.559_562del4

4 papers

NM_004530.6

p.G186R

c.556G>C

1 paper

NM_004530.6

p.P183S

c.547C>T

1 paper

NM_004530.6

p.Y182C

c.545A>G

1 paper

NM_004530.6

p.G181insFs

c.542_543insT

1 paper

NM_004530.6

p.G181insFs

c.541_542insT

1 paper

NM_004530.6

p.G181*

c.541G>T

4 papers

NM_004530.6

p.D180E

c.540T>A

5 papers

NM_004530.6

p.D180E

c.540T>G

1 paper

NM_004530.6

p.D180V

c.539A>T

6 papers

NM_004530.6

p.D180N

c.538G>A

1 paper

NM_004530.6

p.A196T

c.586G>A