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.A1686V

c.5057C>T

Surrounding Variants

1 paper

NM_024652.6

p.Y1691H

c.5071T>C

1 paper

NM_024652.6

p.S1680T

c.5039G>C

2 papers

NM_024652.6

p.G1702S

c.5104G>A

1 paper

NM_024652.6

p.G1660V

c.4979G>T

1 paper

NM_024652.6

p.V1654G

c.4961T>G

1 paper

NM_024652.6

p.V1654L

c.4960G>C

1 paper

NM_024652.6

p.V1654L

c.4960G>T

1 paper

NM_024652.6

p.G1650W

c.4948G>T

1 paper

NM_024652.6

p.A1648T

c.4942G>A

1 paper

NM_024652.6

p.R1726W

c.5176C>T

1 paper

NM_024652.6

p.A1645T

c.4933G>A

1 paper

NM_024652.6

p.L1644fs

c.4930_4931fs