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

2 papers

NM_004793.4

p.A27P

c.79G>C

Surrounding Variants

1 paper

NM_004793.4

p.A27V

c.80C>T

1 paper

NM_004793.4

p.L24V

c.70C>G

1 paper

NM_004793.4

p.L24M

c.70C>A

1 paper

NM_004793.4

p.W38G

c.112T>G

3 papers

NM_004793.4

p.R15P

c.44G>C

1 paper

NM_004793.4

p.A14T

c.40G>A

1 paper

NM_004793.4

p.L40_R41del2

c.118_122del6

1 paper

NM_004793.4

p.Q43R

c.128A>G

1 paper

NM_004793.4

p.Q43P

c.128A>C

1 paper

NM_004793.4

p.Y7S

c.20A>C

1 paper

NM_004793.4

p.S4G

c.10A>G

1 paper

NM_004793.4

p.P51L

c.152C>T