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.E2403D

c.7209A>C

Surrounding Variants

1 paper

NM_198578.4

p.E2403D

c.7209A>T

1 paper

NM_198578.4

p.E2403*

c.7207G>T

1 paper

NM_198578.4

p.K2402insFs

c.7205_7206insG

1 paper

NM_198578.4

p.K2402E

c.7204A>G

1 paper

NM_198578.4

p.E2400K

c.7198G>A

1 paper

NM_198578.4

p.E2400insFs

c.7198_7199insA

1 paper

NM_198578.4

p.E2400fs

c.7198_7199fs

1 paper

NM_198578.4

p.E2400*

c.7198G>T

1 paper

NM_198578.4

p.M2408L

c.7222A>C

1 paper

NM_198578.4

p.M2408L

c.7222A>T

5 papers

NM_198578.4

p.M2408I

c.7224G>A

5 papers

NM_198578.4

p.M2408I

c.7224G>C