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.E1980fs

c.5938_5939fs

Surrounding Variants

1 paper

NM_024652.6

p.E1980A

c.5939A>C

6 papers

NM_024652.6

p.E1980_C1982delFs

c.5938_5944del7

2 papers

NM_024652.6

p.W1989_G1990del0

c.5965_5970del6

2 papers

NM_024652.6

p.A1991insFs

c.5971_5972insG

3 papers

NM_024652.6

p.A1991fs

c.5971_5972fs

1 paper

NM_024652.6

p.A1963fs

c.5887_5888fs

1 paper

NM_024652.6

p.A1963delFs

c.5888_5889delCC

3 papers

NM_024652.6

p.E2002K

c.6004G>A

2 papers

NM_024652.6

p.R2006Q

c.6017G>A

1 paper

NM_024652.6

p.I1945T

c.5834T>C

2 papers

NM_024652.6

p.R1941W

c.5821C>T

1 paper

NM_024652.6

p.G1938G

c.5814C>A