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.V69L

c.205G>T

Surrounding Variants

1 paper

NM_006690.4

p.V69L

c.205G>C

1 paper

NM_006690.4

p.A63_A64ins2

c.189_190ins6

1 paper

NM_006690.4

p.E76D

c.228G>C

1 paper

NM_006690.4

p.E76D

c.228G>T

1 paper

NM_006690.4

p.P78_F79insFs

c.234_235insAA

1 paper

NM_006690.4

p.L40_P41del1

c.119_121delTGC

1 paper

NM_006690.4

p.P18_P20del0

c.52_60del9