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

10 papers

NM_004793.4

p.P676S

c.2026C>T

Surrounding Variants

2 papers

NM_004793.4

p.V675L

c.2023G>T

2 papers

NM_004793.4

p.V675L

c.2023G>C

1 paper

NM_004793.4

p.Q677H

c.2031G>T

1 paper

NM_004793.4

p.Q677H

c.2031G>C

6 papers

NM_001276480.1

p.R483H

c.1448G>A

NM_004793.4

p.R679H

c.2036G>A

9 papers

NM_004793.4

p.R672C

c.2014C>T

1 paper

NM_004793.4

p.V695M

c.2083G>A

1 paper

NM_004793.4

p.R705H

c.2114G>A

1 paper

NM_004793.4

p.L698_R705insFs

c.2093_2115dup23

1 paper

NM_004793.4

p.E706K

c.2116G>A

1 paper

NM_004793.4

p.E706fs

c.2116_2117fs

1 paper

NM_004793.4

p.G708R

c.2122G>C