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

1–12 of 290 variants

8 papers

NM_024652.6

p.L416M

c.1246C>A

8 papers

NM_024652.6

p.E1980fs

c.5938_5939fs

7 papers

NM_024652.6

p.K203E

c.607A>G

6 papers

NM_024652.6

p.E1980_C1982delFs

c.5938_5944del7

5 papers

NM_024652.6

p.T967M

c.2900C>T

5 papers

NM_024652.6

p.D1409A

c.4226A>C

5 papers

NM_024652.6

p.G1938delins

c.5813_5814delinsAA

4 papers

NM_024652.6

p.V697I

c.2089G>A

4 papers

NM_024652.6

p.D866N

c.2596G>A

4 papers

NM_024652.6

p.R1850C

c.5548C>T

4 papers

NM_024652.6

p.S1858N

c.5573G>A

4 papers

NM_024652.6

p.G1938D

c.5813G>A