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.I1945T

c.5834T>C

Surrounding Variants

2 papers

NM_024652.6

p.R1941W

c.5821C>T

1 paper

NM_024652.6

p.G1938G

c.5814C>A

4 papers

NM_024652.6

p.G1938D

c.5813G>A

5 papers

NM_024652.6

p.G1938delins

c.5813_5814delinsAA

1 paper

NM_024652.6

p.I1931fs

c.5791_5792fs

1 paper

NM_024652.6

p.I1931delFs

c.5791delA

1 paper

NM_024652.6

p.R1924R

c.5772C>T

1 paper

NM_024652.6

p.R1924C

c.5770C>T

1 paper

NM_024652.6

p.R1923Splc

c.5768+5G>A

1 paper

NM_024652.6

p.P1922L

c.5765C>T

1 paper

NM_024652.6

p.I1919V

c.5755A>G

1 paper

NM_024652.6

p.G1900E

c.5699G>A