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

19 papers

NM_004793.4

p.R721G

c.2161C>G

Surrounding Variants

8 papers

NM_004793.4

p.A724V

c.2171C>T

1 paper

NM_004793.4

p.K718_V719Splc

c.2155-7C>T

1 paper

NM_001276480.1

p.A528_Y529delFs

c.1584_1587del4

1 paper

NM_004793.4

p.E731K

c.2191G>A

1 paper

NM_004793.4

p.E733Q

c.2197G>C

5 papers

NM_004793.4

p.E733K

c.2197G>A

1 paper

NM_004793.4

p.T738M

c.2213C>T

1 paper

NM_004793.4

p.E740K

c.2218G>A

8 papers

NM_001276480.1

p.P553S

c.1657C>T

NM_004793.4

p.P749S

c.2245C>T

2 papers

NM_004793.4

p.R755G

c.2263C>G

9 papers

NM_004793.4

p.P761L

c.2282C>T

1 paper

NM_004793.4

p.V764M

c.2290G>A