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.F265L

c.795T>A

Surrounding Variants

1 paper

NM_004530.6

p.E266delFs

c.797delA

1 paper

NM_004530.6

p.N264D

c.790A>G

1 paper

NM_004530.6

p.D268_G272delFs

c.802_815del14

3 papers

NM_004530.6

p.Y263*

c.789C>A

3 papers

NM_004530.6

p.Y263*

c.789C>G

2 papers

NM_004530.6

p.G269G

c.807C>T

1 paper

NM_004530.6

p.G272D

c.815G>A

5 papers

NM_004530.6

p.F273F

c.819C>T

1 paper

NM_004530.6

p.W258_N264delFs

c.772_790del19

1 paper

NM_004530.6

p.P275S

c.823C>T

1 paper

NM_004530.6

p.P275L

c.824C>T

1 paper

NM_004530.6

p.R252H

c.755G>A