Varaico: Literature-Extracted Genetic Variants

MMP20

97 papers

RefSeq Summary

Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue r...

Pfam Domains

PG_binding_1aa 35–95UCSCPutative peptidoglycan binding domain

Peptidase_M10aa 116–271UCSCMatrixin

Hemopexinaa 347–389UCSCHemopexin

Hemopexinaa 394–441UCSCHemopexin

Hemopexinaa 443–483UCSCHemopexin

Gene Aliases

HGNC Name

matrix metallopeptidase 20

HGNC Previous Name

matrix metalloproteinase 20 (enamelysin)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004771.4

p.D239E

c.717C>A

Surrounding Variants

2 papers

NM_004771.4

p.D239E

c.717C>G

1 paper

NM_004771.4

p.L232_S241delFs

c.694_722del29

2 papers

NM_004771.4

p.S237Y

c.710C>A

1 paper

NM_004771.4

p.H236Y

c.706C>T

1 paper

NM_004771.4

p.L234_A235insAA

c.700_704ins6

1 paper

NM_004771.4

p.Y245Y

c.735C>T

1 paper

NM_004771.4

p.P246Q

c.737C>A

2 papers

NM_004771.4

p.A231V

c.692C>T

1 paper

NM_004771.4

p.G229D

c.686G>A

2 papers

NM_004771.4

p.F228I

c.682T>A

11 papers

NM_004771.4

p.H226Q

c.678T>G

11 papers

NM_004771.4

p.H226Q

c.678T>A