Varaico: Literature-Extracted Genetic Variants

LRRK1

205 papers

RefSeq Summary

This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking ...

Pfam Domains

Rocaa 640–760UCSCRas of Complex, Roc, domain of DAPkinase

COR-Aaa 844–995UCSCC-terminal of Roc, COR-A domain

COR-Baa 1011–1221UCSCC-terminal of Roc, COR-B domain

Pkinaseaa 1243–1520UCSCProtein kinase domain

Gene Aliases

HGNC Name

leucine rich repeat kinase 1

HGNC Alias Symbols

FLJ23119; KIAA1790; ROCO1; RIPK6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_024652.6

p.F972L

c.2916C>G

Surrounding Variants

2 papers

NM_024652.6

p.F972L

c.2916C>A

2 papers

NM_024652.6

p.F972L

c.2914T>C

1 paper

NM_024652.6

p.Y971C

c.2912A>G

2 papers

NM_024652.6

p.Y971F

c.2912A>T

1 paper

NM_024652.6

p.L975fs

c.2923_2924fs

1 paper

NM_024652.6

p.L975delFs

c.2925delG

5 papers

NM_024652.6

p.T967M

c.2900C>T

1 paper

NM_024652.6

p.A981S

c.2941G>T

1 paper

NM_024652.6

p.A981D

c.2942C>A

1 paper

NM_024652.6

p.A981A

c.2943C>T

1 paper

NM_024652.6

p.E929K

c.2785G>A

1 paper

NM_024652.6

p.E929Q

c.2785G>C