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.E49Q

c.145G>C

Surrounding Variants

1 paper

NM_198578.4

p.E49V

c.146A>T

1 paper

NM_198578.4

p.S48C

c.143C>G

1 paper

NM_198578.4

p.E49E

c.147G>A

1 paper

NM_198578.4

p.E49D

c.147G>C

1 paper

NM_198578.4

p.E49D

c.147G>T

1 paper

NM_198578.4

p.S48P

c.142T>C

35 papers

NM_198578.4

p.R50H

c.149G>A

1 paper

NM_198578.4

p.R50insFs

c.149_150ins4

1 paper

NM_198578.4

p.Y47S

c.140A>C

1 paper

NM_198578.4

p.Y47C

c.140A>G

1 paper

NM_198578.4

p.Y47H

c.139T>C

1 paper

NM_198578.4

p.Y47D

c.139T>G