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.S100R

c.300C>A

Surrounding Variants

1 paper

NM_004793.4

p.S100fs

c.298_299fs

7 papers

NM_004793.4

p.S100fs

c.298_299fs

1 paper

NM_004793.4

p.G99Fs

c.297delinsGGFs

4 papers

NM_004793.4

p.A97Fs

c.291delinsGGFs

2 papers

NM_004793.4

p.G104R

c.310G>C

2 papers

NM_004793.4

p.G104R

c.310G>A

1 paper

NM_004793.4

p.G96D

c.287G>A

1 paper

NM_004793.4

p.E105D

c.315A>T

1 paper

NM_004793.4

p.E105D

c.315A>C

1 paper

NM_004793.4

p.G93A

c.278G>C

1 paper

NM_004793.4

p.I109I

c.327A>T

1 paper

NM_004793.4

p.E91*

c.271G>T