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.R115L

c.344G>T

Surrounding Variants

1 paper

NM_004530.6

p.R115C

c.343C>T

1 paper

NM_004530.6

p.P114T

c.340C>A

1 paper

NM_004530.6

p.F113L

c.337T>C

1 paper

NM_004530.6

p.Q123*

c.367C>T

1 paper

NM_004530.6

p.Q123R

c.368A>G

1 paper

NM_004530.6

p.V107A

c.320T>C

1 paper

NM_004530.6

p.Q123H

c.369G>C

1 paper

NM_004530.6

p.N104_P105delFs

c.312_315del4

2 papers

NM_004530.6

p.G103D

c.308G>A

2 papers

NM_004530.6

p.R127K

c.380G>A

3 papers

NM_004530.6

p.C102*

c.306C>A

4 papers

NM_004530.6

p.C102C

c.306C>T