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

8 papers

NM_024652.6

p.L416M

c.1246C>A

Surrounding Variants

3 papers

NM_024652.6

p.S405C

c.1214C>G

1 paper

NM_024652.6

p.H401Y

c.1201C>T

1 paper

NM_024652.6

p.A397S

c.1189G>T

1 paper

NM_024652.6

p.A373Splc

c.1118-3T>A

1 paper

NM_024652.6

p.L367M

c.1099T>A

1 paper

NM_024652.6

p.Q355E

c.1063C>G

1 paper

NM_024652.6

p.Q355*

c.1063C>T

1 paper

NM_024652.6

p.L354H

c.1061T>A

1 paper

NM_024652.6

p.N339S

c.1016A>G

1 paper

NM_024652.6

p.A436S

c.1306G>T

1 paper

NM_024652.6

p.E438V

c.1313A>T

1 paper

NM_024652.6

p.V446_F447insTA

c.1336_1340ins6