Varaico: Literature-Extracted Genetic Variants

LONP1

180 papers

RefSeq Summary

This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively dam...

Pfam Domains

LON_substr_bdgaa 123–368UCSCATP-dependent protease La (LON) substrate-binding domain

AAAaa 519–661UCSCATPase family associated with various cellular activities (AAA)

Lon_lidaa 680–735UCSCLon protease AAA+ ATPase lid domain

Lon_Caa 736–949UCSCLon protease (S16) C-terminal proteolytic domain

Gene Aliases

HGNC Name

lon peptidase 1, mitochondrial

HGNC Previous Symbol

PRSS15

Papers

RefSeq ID

Protein change

DNA change

1–12 of 233 variants

19 papers

NM_004793.4

p.R721G

c.2161C>G

10 papers

NM_004793.4

p.P676S

c.2026C>T

9 papers

NM_004793.4

p.R672C

c.2014C>T

9 papers

NM_004793.4

p.P761L

c.2282C>T

8 papers

NM_004793.4

p.S631Y

c.1892C>A

8 papers

NM_004793.4

p.A724V

c.2171C>T

7 papers

NM_004793.4

p.S100fs

c.298_299fs

7 papers

NM_004793.4

p.A670V

c.2009C>T

7 papers

NM_004793.4

p.P749S

c.2245C>T

7 papers

NM_004793.4

p.G767E

c.2300G>A

7 papers

NM_004793.4

p.R786W

c.2356C>T

6 papers

NM_004793.4

p.E476A

c.1427A>C