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

1 paper

NM_004793.4

p.C520S

c.1558T>A

Surrounding Variants

1 paper

NM_004793.4

p.C520S

c.1559G>C

1 paper

NM_004793.4

p.P524L

c.1571C>T

1 paper

NM_004793.4

p.P525L

c.1574C>T

1 paper

NM_004793.4

p.P525insFs

c.1574dupC

2 papers

NM_004793.4

p.P525fs

c.1573_1574fs

1 paper

NM_004793.4

p.P525delFs

c.1574delG

1 paper

NM_004793.4

p.V527V

c.1581G>C

1 paper

NM_004793.4

p.G528_K529insFs

c.1584_1585ins4

1 paper

NM_004793.4

p.K529R

c.1586A>G

4 papers

NM_004793.4

p.R538C

c.1612C>T

1 paper

NM_004793.4

p.R538H

c.1613G>A

1 paper

NM_004793.4

p.N541K

c.1623C>G