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.V430I

c.1288G>A

Surrounding Variants

1 paper

NM_198578.4

p.N429K

c.1287T>A

1 paper

NM_198578.4

p.N429K

c.1287T>G

2 papers

NM_198578.4

p.Q428insFs

c.1283dupA

3 papers

NM_198578.4

p.E427K

c.1279G>A

1 paper

NM_198578.4

p.L426*

c.1277T>A

1 paper

NM_198578.4

p.L426*

c.1277T>G

1 paper

NM_198578.4

p.L425H

c.1274T>A

1 paper

NM_198578.4

p.L425F

c.1273C>T

2 papers

NM_198578.4

p.L422fs

c.1264_1265fs

1 paper

NM_198578.4

p.A421E

c.1262C>A

4 papers

NM_198578.4

p.A421delFs

c.1263delA

85 papers

NM_198578.4

p.A419V

c.1256C>T