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.L39Q

c.116T>A

Surrounding Variants

1 paper

NM_198578.4

p.I38V

c.112A>G

2 papers

NM_198578.4

p.E40E

c.120G>A

1 paper

NM_198578.4

p.E40_D41insFs

c.120_121insA

1 paper

NM_198578.4

p.Q37_I38ins1

c.111_112insTTC

1 paper

NM_198578.4

p.Q37insFs

c.110dupA

1 paper

NM_198578.4

p.Q37fs

c.109_110fs

1 paper

NM_198578.4

p.D41_L42insFs

c.123_124insA

1 paper

NM_198578.4

p.L42R

c.125T>G

1 paper

NM_198578.4

p.V36I

c.106G>A

1 paper

NM_198578.4

p.L42L

c.126G>A

1 paper

NM_198578.4

p.V36F

c.106G>T

2 papers

NM_198578.4

p.L35L

c.103C>T