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.D716E

c.2148C>A

Surrounding Variants

1 paper

NM_024652.6

p.D716E

c.2148C>G

1 paper

NM_024652.6

p.T715M

c.2144C>T

1 paper

NM_024652.6

p.A727V

c.2180C>T

1 paper

NM_024652.6

p.P703_A704del2

c.2107_2111del6

4 papers

NM_024652.6

p.V697I

c.2089G>A

1 paper

NM_024652.6

p.V693M

c.2077G>A

1 paper

NM_024652.6

p.K746E

c.2236A>G

1 paper

NM_024652.6

p.L753P

c.2258T>C

1 paper

NM_024652.6

p.L761F

c.2283A>C

1 paper

NM_024652.6

p.L761F

c.2283A>T

1 paper

NM_024652.6

p.E763_K765delFs

c.2287_2293del7

1 paper

NM_024652.6

p.E763fs

c.2287_2288fs