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.Q200_I201Splc

c.600+52T>A

Surrounding Variants

1 paper

NM_031490.5

p.T231insFs

c.691dupA

1 paper

NM_031490.5

p.K233N

c.699A>C

1 paper

NM_031490.5

p.K233N

c.699A>T

1 paper

NM_031490.5

p.P234A

c.700C>G

1 paper

NM_031490.5

p.I121M

c.363T>G

1 paper

NM_031490.5

p.K117T

c.350A>C

1 paper

NM_031490.5

p.E116*

c.346G>T

1 paper

NM_031490.5

p.S255*

c.764C>A

1 paper

NM_031490.5

p.S255*

c.764C>G

1 paper

NM_031490.5

p.D268H

c.802G>C

1 paper

NM_031490.5

p.D268G

c.803A>G

1 paper

NM_031490.5

p.R278G

c.832C>G