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.M1431T

c.4292T>C

Surrounding Variants

2 papers

NM_198578.4

p.M1431V

c.4291A>G

4 papers

NM_198578.4

p.A1430A

c.4290C>T

1 paper

NM_198578.4

p.A1430V

c.4289C>T

1 paper

NM_198578.4

p.D1429G

c.4286A>G

1 paper

NM_198578.4

p.W1434*

c.4301G>A

1 paper

NM_198578.4

p.W1434*

c.4302G>A

1 paper

NM_198578.4

p.W1434C

c.4302G>C

1 paper

NM_198578.4

p.W1434C

c.4302G>T

1 paper

NM_198578.4

p.L1435F

c.4303C>T

2 papers

NM_198578.4

p.F1436L

c.4306T>C

1 paper

NM_198578.4

p.F1436S

c.4307T>C

2 papers

NM_198578.4

p.F1436L

c.4308C>A