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.Y1992F

c.5975A>T

Surrounding Variants

3 papers

NM_198578.4

p.R1993*

c.5977C>T

1 paper

NM_198578.4

p.R1993Q

c.5978G>A

3 papers

NM_198578.4

p.I1991V

c.5971A>G

23 papers

NM_198578.4

p.D1994N

c.5980G>A

143 papers

NM_198578.4

p.D1994A

c.5981A>C

1 paper

NM_198578.4

p.D1994E

c.5982C>A

1 paper

NM_198578.4

p.D1994E

c.5982C>G

2 papers

NM_198578.4

p.N1999S

c.5996A>G

1 paper

NM_198578.4

p.L2001P

c.6002T>C

1 paper

NM_198578.4

p.L2002F

c.6004C>T

2 papers

NM_198578.4

p.T2004A

c.6010A>G

1 paper

NM_198578.4

p.T2004T

c.6012A>G