Varaico: Literature-Extracted Genetic Variants

LRRK2

4,517 papers

RefSeq Summary

This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain,...

Pfam Domains

ARM_LRRK2aa 17–649UCSCLRRK2 ARM repeat

ANK_LRRK2aa 679–808UCSCLRRK2 ANK repeat

LRR_8aa 1011–1070UCSCLeucine rich repeat

Rocaa 1336–1455UCSCRas of Complex, Roc, domain of DAPkinase

COR-Aaa 1524–1673UCSCC-terminal of Roc, COR-A domain

COR-Baa 1688–1858UCSCC-terminal of Roc, COR-B domain

Gene Aliases

HGNC Name

leucine rich repeat kinase 2

HGNC Previous Symbol

PARK8

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_198578.4

p.Y1894F

c.5681A>T

Surrounding Variants

1 paper

NM_198578.4

p.Y1894H

c.5680T>C

2 papers

NM_198578.4

p.R1895*

c.5683C>T

1 paper

NM_198578.4

p.V1893F

c.5677G>T

1 paper

NM_198578.4

p.A1896G

c.5687C>G

2 papers

NM_198578.4

p.A1896V

c.5687C>T

1 paper

NM_198578.4

p.A1897A

c.5691C>G

1 paper

NM_198578.4

p.A1897A

c.5691C>T

1 paper

NM_198578.4

p.Y1898_E1899delFs

c.5694_5697del4

1 paper

NM_198578.4

p.Y1898*

c.5694T>A

1 paper

NM_198578.4

p.Y1898*

c.5694T>G

3 papers

NM_198578.4

p.G1900E

c.5699G>A

1 paper

NM_198578.4

p.E1901K

c.5701G>A