Varaico: Literature-Extracted Genetic Variants

LONP2

44 papers

RefSeq Summary

In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent prot...

Pfam Domains

LON_substr_bdgaa 12–220UCSCATP-dependent protease La (LON) substrate-binding domain

AAAaa 371–513UCSCATPase family associated with various cellular activities (AAA)

Lon_lidaa 532–588UCSCLon protease AAA+ ATPase lid domain

Lon_Caa 628–837UCSCLon protease (S16) C-terminal proteolytic domain

Gene Aliases

HGNC Name

lon peptidase 2, peroxisomal

HGNC Alias Symbols

MGC4840; LONPL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031490.5

p.A70S

c.208G>T

Surrounding Variants

1 paper

NM_031490.5

p.H77Q

c.231C>A

1 paper

NM_031490.5

p.H77Q

c.231C>G

1 paper

NM_031490.5

p.V33M

c.97G>A

1 paper

NM_031490.5

p.S32insFs

c.95dupG

1 paper

NM_031490.5

p.S32fs

c.94_95fs

1 paper

NM_031490.5

p.V22F

c.64G>T

1 paper

NM_031490.5

p.I7M

c.21C>G

1 paper

NM_031490.5

p.E116*

c.346G>T

1 paper

NM_031490.5

p.K117T

c.350A>C

1 paper

NM_031490.5

p.I121M

c.363T>G