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

11 papers

NM_198578.4

p.R767H

c.2300G>A

Surrounding Variants

2 papers

NM_198578.4

p.R767C

c.2299C>T

1 paper

NM_198578.4

p.S766F

c.2297C>T

1 paper

NM_198578.4

p.S764N

c.2291G>A

4 papers

NM_198578.4

p.D770E

c.2310T>A

4 papers

NM_198578.4

p.R772*

c.2314C>T

2 papers

NM_198578.4

p.R772Q

c.2315G>A

2 papers

NM_198578.4

p.A774V

c.2321C>T

1 paper

NM_198578.4

p.A774A

c.2322G>A

1 paper

NM_198578.4

p.E759*

c.2275G>T

4 papers

NM_198578.4

p.T776M

c.2327C>T

1 paper

NM_198578.4

p.I777M

c.2331A>G

1 paper

NM_198578.4

p.K756E

c.2266A>G