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

2 papers

NM_004530.6

p.V69L

c.205G>T

Surrounding Variants

2 papers

NM_004530.6

p.V69L

c.205G>C

1 paper

NM_004530.6

p.V69A

c.206T>C

1 paper

NM_004530.6

p.S64_D72delFs

c.192_216del25

1 paper

NM_004530.6

p.S64fs

c.190_191fs

1 paper

NM_004530.6

p.S64C

c.190A>T

1 paper

NM_004530.6

p.E63G

c.188A>G

2 papers

NM_004530.6

p.K76K

c.228G>A

1 paper

NM_004530.6

p.Q78_K79insFs

c.234_235insAA

1 paper

NM_004530.6

p.F80C

c.239T>G

1 paper

NM_004530.6

p.T56I

c.167C>T

1 paper

NM_004530.6

p.G82G

c.246A>T

1 paper

NM_004530.6

p.N55D

c.163A>G