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.C2384S

c.7151G>C

Surrounding Variants

1 paper

NM_198578.4

p.C2384S

c.7150T>A

634 papers

NM_198578.4

p.G2385R

c.7153G>A

633 papers

NM_198578.4

p.G2385R

c.7153G>C

2 papers

NM_198578.4

p.G2385E

c.7154G>A

7 papers

NM_198578.4

p.G2385A

c.7154G>C

20 papers

NM_198578.4

p.G2385G

c.7155A>G

2 papers

NM_198578.4

p.K2382N

c.7146A>C

2 papers

NM_198578.4

p.K2382N

c.7146A>T

1 paper

NM_198578.4

p.L2386L

c.7158A>G

1 paper

NM_198578.4

p.C2389*

c.7167C>A

20 papers

NM_198578.4

p.V2390M

c.7168G>A

1 paper

NM_198578.4

p.K2378N

c.7134G>C