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.F1479L

c.4437C>A

Surrounding Variants

1 paper

NM_198578.4

p.F1479L

c.4437C>G

1 paper

NM_198578.4

p.P1480S

c.4438C>T

1 paper

NM_198578.4

p.P1480L

c.4439C>T

1 paper

NM_198578.4

p.F1479L

c.4435T>C

1 paper

NM_198578.4

p.G1478G

c.4434G>C

1 paper

NM_198578.4

p.A1481T

c.4441G>A

2 papers

NM_198578.4

p.R1477L

c.4430G>T

2 papers

NM_198578.4

p.R1483*

c.4447C>T

9 papers

NM_198578.4

p.R1483Q

c.4448G>A

1 paper

NM_198578.4

p.K1471R

c.4412A>G

1 paper

NM_198578.4

p.T1470A

c.4408A>G

1 paper

NM_198578.4

p.N1489S

c.4466A>G