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

6 papers

NM_198578.4

p.H1216R

c.3647A>G

Surrounding Variants

1 paper

NM_198578.4

p.W1217L

c.3650G>T

11 papers

NM_198578.4

p.A1215T

c.3643G>A

1 paper

NM_198578.4

p.K1218E

c.3652A>G

1 paper

NM_198578.4

p.P1214P

c.3642C>T

1 paper

NM_198578.4

p.S1219P

c.3655T>C

2 papers

NM_198578.4

p.G1213S

c.3637G>A

1 paper

NM_198578.4

p.P1212P

c.3636A>G

1 paper

NM_198578.4

p.P1212S

c.3634C>T

2 papers

NM_198578.4

p.N1221K

c.3663C>A

2 papers

NM_198578.4

p.N1221K

c.3663C>G

1 paper

NM_198578.4

p.Y1210Y

c.3630C>T

1 paper

NM_198578.4

p.Y1210F

c.3629A>T