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.A2054G

c.6161C>G

Surrounding Variants

1 paper

NM_198578.4

p.Q2053E

c.6157C>G

1 paper

NM_198578.4

p.N2051S

c.6152A>G

1 paper

NM_198578.4

p.S2058*

c.6173C>A

1 paper

NM_198578.4

p.S2058*

c.6173C>G

1 paper

NM_198578.4

p.S2058L

c.6173C>T

2 papers

NM_198578.4

p.F2059L

c.6175T>C

2 papers

NM_198578.4

p.F2059L

c.6177T>A

2 papers

NM_198578.4

p.F2059L

c.6177T>G

1 paper

NM_198578.4

p.V2048V

c.6144C>A

4 papers

NM_198578.4

p.L2062_L2063delFs

c.6184_6188del5

1 paper

NM_198578.4

p.L2062fs

c.6184_6185fs

1 paper

NM_198578.4

p.G2046R

c.6136G>A