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.D1873E

c.5619T>G

Surrounding Variants

1 paper

NM_198578.4

p.D1873E

c.5619T>A

13 papers

NM_198578.4

p.E1874*

c.5620G>T

1 paper

NM_198578.4

p.D1873H

c.5617G>C

1 paper

NM_198578.4

p.D1873Y

c.5617G>T

2 papers

NM_198578.4

p.N1872S

c.5615A>G

8 papers

NM_198578.4

p.L1870F

c.5610G>C

8 papers

NM_198578.4

p.L1870F

c.5610G>T

51 papers

NM_198578.4

p.M1869T

c.5606T>C

1 paper

NM_198578.4

p.M1869R

c.5606T>G

15 papers

NM_198578.4

p.M1869V

c.5605A>G

1 paper

NM_198578.4

p.Q1879K

c.5635C>A

1 paper

NM_198578.4

p.A1880V

c.5639C>T