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.A606V

c.1817C>T

Surrounding Variants

1 paper

NM_004793.4

p.L608P

c.1823T>C

1 paper

NM_004793.4

p.Q615H

c.1845G>T

1 paper

NM_004793.4

p.Q615H

c.1845G>C

1 paper

NM_004793.4

p.R597*

c.1789C>T

3 papers

NM_001276480.1

p.V430M

c.1288G>A

NM_004793.4

p.V626M

c.1876G>A

8 papers

NM_004793.4

p.S631Y

c.1892C>A

1 paper

NM_004793.4

p.K632_V633Splc

c.1896+1G>T

1 paper

NM_004793.4

p.K632_V633Splc

c.1896+12G>C

1 paper

NM_004793.4

p.F635L

c.1903T>C

1 paper

NM_004793.4

p.F635L

c.1905C>G

1 paper

NM_004793.4

p.F635L

c.1905C>A

2 papers

NM_004793.4

p.C637S

c.1909T>A