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

2 papers

NM_198578.4

p.E1459K

c.4375G>A

Surrounding Variants

1 paper

NM_198578.4

p.D1458N

c.4372G>A

1 paper

NM_198578.4

p.S1457Y

c.4370C>A

1 paper

NM_198578.4

p.V1456A

c.4367T>C

1 paper

NM_198578.4

p.R1462C

c.4384C>T

1 paper

NM_198578.4

p.R1462H

c.4385G>A

1 paper

NM_198578.4

p.R1462L

c.4385G>T

1 paper

NM_198578.4

p.K1463insFs

c.4387_4388insA

1 paper

NM_198578.4

p.A1464T

c.4390G>A

7 papers

NM_198578.4

p.A1464G

c.4391C>G

1 paper

NM_198578.4

p.L1454_R1462del9

c.4360_4385del27

1 paper

NM_198578.4

p.H1453R

c.4358A>G

1 paper

NM_198578.4

p.T1452I

c.4355C>T