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

Selected Variant

7 papers

NM_004793.4

p.R786W

c.2356C>T

Surrounding Variants

1 paper

NM_004793.4

p.S776T

c.2326T>A

2 papers

NM_004793.4

p.G798S

c.2392G>A

1 paper

NM_004793.4

p.E801A

c.2402A>C

1 paper

NM_004793.4

p.E812A

c.2435A>C

1 paper

NM_004793.4

p.A821P

c.2461G>C

4 papers

NM_004793.4

p.A829T

c.2485G>A

1 paper

NM_004793.4

p.V836delFs

c.2506delC

1 paper

NM_004793.4

p.L842M

c.2524C>A

1 paper

NM_004793.4

p.E846K

c.2536G>A

1 paper

NM_004793.4

p.G847S

c.2539G>A

2 papers

NM_004793.4

p.P850L

c.2549C>T

1 paper

NM_004793.4

p.G853S

c.2557G>A