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.M156I

c.468G>C

Surrounding Variants

1 paper

NM_024652.6

p.M156I

c.468G>A

1 paper

NM_024652.6

p.M156I

c.468G>T

1 paper

NM_024652.6

p.W155*

c.464G>A

1 paper

NM_024652.6

p.N154I

c.461A>T

1 paper

NM_024652.6

p.Y183Y

c.549C>T

1 paper

NM_024652.6

p.V194M

c.580G>A

1 paper

NM_024652.6

p.L198P

c.593T>C

7 papers

NM_024652.6

p.K203E

c.607A>G

1 paper

NM_024652.6

p.R215W

c.643C>T

3 papers

NM_024652.6

p.I224V

c.670A>G

1 paper

NM_024652.6

p.L226_D230del5

c.676_689del15

1 paper

NM_024652.6

p.D230_P231del2

c.688_692del6