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

4 papers

NM_198578.4

p.E1797D

c.5391G>T

Surrounding Variants

4 papers

NM_198578.4

p.E1797D

c.5391G>C

1 paper

NM_198578.4

p.E1797K

c.5389G>A

1 paper

NM_198578.4

p.L1795L

c.5385G>A

37 papers

NM_198578.4

p.L1795F

c.5385G>C

38 papers

NM_198578.4

p.L1795F

c.5385G>T

1 paper

NM_198578.4

p.G1794E

c.5381G>A

1 paper

NM_198578.4

p.C1801W

c.5403T>G

1 paper

NM_198578.4

p.E1805fs

c.5413_5414fs

1 paper

NM_198578.4

p.E1805delFs

c.5414delA

1 paper

NM_198578.4

p.E1789D

c.5367A>C

1 paper

NM_198578.4

p.E1789D

c.5367A>T

1 paper

NM_198578.4

p.T1806I

c.5417C>T