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

8 papers

NM_004530.6

p.V400del1

c.1198_1199delGTG

Surrounding Variants

1 paper

NM_004530.6

p.V400M

c.1198G>A

1 paper

NM_004530.6

p.V400L

c.1198G>C

1 paper

NM_004530.6

p.V400L

c.1198G>T

1 paper

NM_004530.6

p.V400fs

c.1198_1199fs

1 paper

NM_004530.6

p.L397R

c.1190T>G

1 paper

NM_004530.6

p.L397_F398insFs

c.1191_1192insG

4 papers

NM_004530.6

p.S396R

c.1188C>A

4 papers

NM_004530.6

p.S396R

c.1188C>G

4 papers

NM_004530.6

p.S396R

c.1186A>C

1 paper

NM_004530.6

p.Y395C

c.1184A>G

11 papers

NM_004530.6

p.E404K

c.1210G>A

1 paper

NM_004530.6

p.G394A

c.1181G>C