Varaico: Literature-Extracted Genetic Variants

MMP24

47 papers

RefSeq Summary

This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological proces...

Pfam Domains

PG_binding_1aa 75–134UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 162–327UCSCMatrixin

Hemopexinaa 384–427UCSCHemopexin

Hemopexinaa 429–473UCSCHemopexin

Hemopexinaa 476–522UCSCHemopexin

Hemopexinaa 524–569UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 24

HGNC Alias Symbol

MT5-MMP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006690.4

p.K518R

c.1553A>G

Surrounding Variants

1 paper

NM_006690.4

p.V516M

c.1546G>A

1 paper

NM_006690.4

p.P513P

c.1539C>A

2 papers

NM_006690.4

p.T455M

c.1364C>T

1 paper

NM_006690.4

p.A432T

c.1294G>A

1 paper

NM_006690.4

p.R542Q

c.1625G>A

1 paper

NM_006690.4

p.P559L

c.1676C>T

1 paper

NM_006690.4

p.P559P

c.1677G>A

1 paper

NM_006690.4

p.R564H

c.1691G>A

1 paper

NM_006690.4

p.R576Q

c.1727G>A

1 paper

NM_006690.4

p.R577Q

c.1730G>A

1 paper

NM_006690.4

p.P597P

c.1791G>A

1 paper

NM_006690.4

p.G630_P631ins2

c.1890_1891ins6