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

5 papers

NM_024652.6

p.D1409A

c.4226A>C

Surrounding Variants

1 paper

NM_024652.6

p.Y1410D

c.4228T>G

1 paper

NM_024652.6

p.Y1410Y

c.4230C>T

1 paper

NM_024652.6

p.G1411R

c.4231G>A

1 paper

NM_024652.6

p.G1411R

c.4231G>C

1 paper

NM_024652.6

p.I1412F

c.4234A>T

2 papers

NM_024652.6

p.I1412T

c.4235T>C

1 paper

NM_024652.6

p.E1425_G1426del2

c.4273_4277del6

1 paper

NM_024652.6

p.T1427A

c.4279A>G

1 paper

NM_024652.6

p.Q1431K

c.4291C>A

2 papers

NM_024652.6

p.L1387L

c.4161G>A

1 paper

NM_024652.6

p.D1386A

c.4157A>C

1 paper

NM_024652.6

p.R1438H

c.4313G>A