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

4 papers

NM_024652.6

p.S1858N

c.5573G>A

Surrounding Variants

4 papers

NM_024652.6

p.R1850C

c.5548C>T

1 paper

NM_024652.6

p.P1849ins2

c.5546_5547ins6

2 papers

NM_024652.6

p.T1873T

c.5619C>T

1 paper

NM_024652.6

p.E1876K

c.5626G>A

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.L1835F

c.5503C>T

1 paper

NM_024652.6

p.T1883M

c.5648C>T

1 paper

NM_024652.6

p.P1884P

c.5652C>T

1 paper

NM_024652.6

p.G1900R

c.5698G>A

1 paper

NM_024652.6

p.G1900R

c.5698G>C

1 paper

NM_024652.6

p.G1900E

c.5699G>A