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

1 paper

NM_024652.6

p.V320M

c.958G>A

Surrounding Variants

1 paper

NM_024652.6

p.L317L

c.949C>T

1 paper

NM_024652.6

p.S329_R330delFs

c.987_988delCA

2 papers

NM_024652.6

p.L307L

c.921G>C

1 paper

NM_024652.6

p.N303S

c.908A>G

1 paper

NM_024652.6

p.T281M

c.842C>T

1 paper

NM_024652.6

p.W260*

c.780G>A

1 paper

NM_024652.6

p.W260*

c.779G>A

1 paper

NM_024652.6

p.W260_L270delFs

c.779_809del31

1 paper

NM_024652.6

p.N339S

c.1016A>G

1 paper

NM_024652.6

p.L354H

c.1061T>A

1 paper

NM_024652.6

p.Q355E

c.1063C>G

1 paper

NM_024652.6

p.Q355*

c.1063C>T