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

1 paper

NM_198578.4

p.P1717P

c.5151T>G

Surrounding Variants

2 papers

NM_198578.4

p.P1717L

c.5150C>T

1 paper

NM_198578.4

p.S1716A

c.5146T>G

5 papers

NM_198578.4

p.S1721S

c.5163A>G

1 paper

NM_198578.4

p.L1712F

c.5136A>C

2 papers

NM_198578.4

p.L1712F

c.5136A>T

1 paper

NM_198578.4

p.L1712*

c.5135T>A

1 paper

NM_198578.4

p.L1712*

c.5135T>G

1 paper

NM_198578.4

p.R1723I

c.5168G>T

2 papers

NM_198578.4

p.R1711Q

c.5132G>A

1 paper

NM_198578.4

p.N1710S

c.5129A>G

1 paper

NM_198578.4

p.L1708V

c.5122T>G

6 papers

NM_198578.4

p.R1707K

c.5120G>A