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

4 papers

NM_024652.6

p.D866N

c.2596G>A

Surrounding Variants

1 paper

NM_024652.6

p.D865N

c.2593G>A

1 paper

NM_024652.6

p.D865Y

c.2593G>T

1 paper

NM_024652.6

p.R863W

c.2587C>T

1 paper

NM_024652.6

p.V854M

c.2560G>A

1 paper

NM_024652.6

p.E880*

c.2638G>T

1 paper

NM_024652.6

p.Q881H

c.2643G>C

1 paper

NM_024652.6

p.Q881H

c.2643G>T

1 paper

NM_024652.6

p.T882A

c.2644A>G

1 paper

NM_024652.6

p.D884N

c.2650G>A

1 paper

NM_024652.6

p.N885N

c.2655C>T

1 paper

NM_024652.6

p.L893L

c.2679G>A

1 paper

NM_024652.6

p.Q836*

c.2506C>T