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.F1227F

c.3681T>C

Surrounding Variants

2 papers

NM_198578.4

p.F1227L

c.3681T>A

2 papers

NM_198578.4

p.F1227L

c.3681T>G

41 papers

NM_198578.4

p.S1228T

c.3683G>C

2 papers

NM_198578.4

p.S1228I

c.3683G>T

2 papers

NM_198578.4

p.F1227L

c.3679T>C

2 papers

NM_198578.4

p.L1226F

c.3678A>C

2 papers

NM_198578.4

p.L1226F

c.3678A>T

1 paper

NM_198578.4

p.L1225L

c.3675C>A

1 paper

NM_198578.4

p.H1229Q

c.3687T>A

1 paper

NM_198578.4

p.H1229Q

c.3687T>G

1 paper

NM_198578.4

p.L1225F

c.3673C>T

2 papers

NM_198578.4

p.E1224E

c.3672A>G