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

42 papers

NM_198578.4

p.P1542S

c.4624C>T

Surrounding Variants

1 paper

NM_198578.4

p.P1542_I1543insG

c.4624_4628ins3

1 paper

NM_198578.4

p.I1543V

c.4627A>G

3 papers

NM_198578.4

p.K1539E

c.4615A>G

1 paper

NM_198578.4

p.F1545L

c.4633T>C

1 paper

NM_198578.4

p.R1538R

c.4614T>C

1 paper

NM_198578.4

p.R1538H

c.4613G>A

1 paper

NM_198578.4

p.F1545L

c.4635T>A

1 paper

NM_198578.4

p.F1545L

c.4635T>G

4 papers

NM_198578.4

p.R1538C

c.4612C>T

1 paper

NM_198578.4

p.D1549D

c.4647C>T

1 paper

NM_198578.4

p.R1550W

c.4648C>T

1 paper

NM_198578.4

p.R1550L

c.4649G>T