Varaico: Literature-Extracted Genetic Variants

Gene:MMP2
Variant:p.E2delFs

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
PG_binding_1aa 69–97UCSCPutative peptidoglycan binding domain
PG_binding_1aa 69–97UCSCPutative peptidoglycan binding domain
Peptidase_M10aa 118–272UCSCMatrixin
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.E2delFs
c.4delG
Surrounding Variants
2 papers
NM_004530.6
p.M1K
c.2T>A
1 paper
NM_004530.6
p.M1T
c.2T>C
1 paper
NM_004530.6
p.M1R
c.2T>G
1 paper
NM_004530.6
p.M1delFs
c.2delT
1 paper
NM_004530.6
p.M1I
c.3G>A
1 paper
NM_004530.6
p.M1insFs
c.1dupA
1 paper
NM_004530.6
p.E2E
c.6G>A
1 paper
NM_004530.6
p.A3E
c.8C>A
1 paper
NM_004530.6
p.M5I
c.15G>A
1 paper
NM_004530.6
p.A6fs
c.16_17fs
1 paper
NM_004530.6
p.R7L
c.20G>T
1 paper
NM_004530.6
p.G8R
c.22G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."