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.E1150*

c.3448G>T

Surrounding Variants

1 paper

NM_198578.4

p.E1150A

c.3449A>C

1 paper

NM_198578.4

p.L1149L

c.3447T>C

1 paper

NM_198578.4

p.L1149I

c.3445C>A

1 paper

NM_198578.4

p.L1149F

c.3445C>T

24 papers

NM_198578.4

p.A1151T

c.3451G>A

1 paper

NM_198578.4

p.A1151S

c.3451G>T

3 papers

NM_198578.4

p.C1152F

c.3455G>T

1 paper

NM_198578.4

p.E1146D

c.3438G>C

1 paper

NM_198578.4

p.E1146D

c.3438G>T

2 papers

NM_198578.4

p.K1154E

c.3460A>G

1 paper

NM_198578.4

p.S1145*

c.3434C>A

1 paper

NM_198578.4

p.S1145*

c.3434C>G