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.I2011L

c.6031A>C

Surrounding Variants

1 paper

NM_198578.4

p.I2012V

c.6034A>G

1 paper

NM_198578.4

p.I2012F

c.6034A>T

2 papers

NM_198578.4

p.A2010T

c.6028G>A

125 papers

NM_198578.4

p.I2012T

c.6035T>C

1 paper

NM_198578.4

p.N2008K

c.6024T>A

1 paper

NM_198578.4

p.N2008K

c.6024T>G

1 paper

NM_198578.4

p.N2008S

c.6023A>G

1 paper

NM_198578.4

p.P2007P

c.6021C>T

1 paper

NM_198578.4

p.K2014N

c.6042G>C

1 paper

NM_198578.4

p.K2014N

c.6042G>T

4 papers

NM_198578.4

p.I2015T

c.6044T>C

58 papers

NM_198578.4

p.A2016T

c.6046G>A