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.R2394Splc

c.7182-8G>A

Surrounding Variants

1 paper

NM_198578.4

p.R2394R

c.7182G>A

1 paper

NM_198578.4

p.R2394S

c.7182G>C

8 papers

NM_198578.4

p.E2395K

c.7183G>A

1 paper

NM_198578.4

p.V2396insFs

c.7187_7188insGT

1 paper

NM_198578.4

p.V2396L

c.7186G>C

1 paper

NM_198578.4

p.V2396L

c.7186G>T

82 papers

NM_198578.4

p.M2397T

c.7190T>C

1 paper

NM_198578.4

p.M2397I

c.7191G>A

1 paper

NM_198578.4

p.M2397I

c.7191G>C

1 paper

NM_198578.4

p.M2397I

c.7191G>T

1 paper

NM_198578.4

p.E2400K

c.7198G>A

1 paper

NM_198578.4

p.E2400insFs

c.7198_7199insA