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.R1790R

c.5368C>A

Surrounding Variants

3 papers

NM_024652.6

p.P1796H

c.5387C>A

1 paper

NM_024652.6

p.V1779D

c.5336T>A

2 papers

NM_024652.6

p.A1814T

c.5440G>A

2 papers

NM_024652.6

p.V1751I

c.5251G>A

1 paper

NM_024652.6

p.E1748fs

c.5242_5243fs

2 papers

NM_024652.6

p.L1835F

c.5503C>T

1 paper

NM_024652.6

p.C1839insFs

c.5515_5516ins5

1 paper

NM_024652.6

p.C1839fs

c.5515_5516fs

2 papers

NM_024652.6

p.V1739V

c.5217C>T

2 papers

NM_024652.6

p.M1735V

c.5203A>G

1 paper

NM_024652.6

p.A1732T

c.5194G>A

1 paper

NM_024652.6

p.P1849ins2

c.5546_5547ins6