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.K17N

c.51G>C

Surrounding Variants

1 paper

NM_198578.4

p.K17K

c.51G>A

1 paper

NM_198578.4

p.K17N

c.51G>T

188 papers

NM_198578.4

p.K18M

c.53A>T

1 paper

NM_198578.4

p.L16L

c.48G>A

1 paper

NM_198578.4

p.L16insFs

c.47_48insG

1 paper

NM_198578.4

p.L16M

c.46C>A

3 papers

NM_198578.4

p.L19L

c.57G>A

1 paper

NM_198578.4

p.L19_I20insFs

c.57_58insGC

1 paper

NM_198578.4

p.L19_I20insFs

c.57_58insGT

2 papers

NM_198578.4

p.T15T

c.45T>C

1 paper

NM_198578.4

p.T15N

c.44C>A

1 paper

NM_198578.4

p.I20T

c.59T>C