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.Q1961Q

c.5883G>A

Surrounding Variants

2 papers

NM_198578.4

p.Q1961R

c.5882A>G

1 paper

NM_198578.4

p.L1958V

c.5872C>G

1 paper

NM_198578.4

p.R1957R

c.5871C>T

2 papers

NM_198578.4

p.R1957H

c.5870G>A

2 papers

NM_198578.4

p.R1957L

c.5870G>T

6 papers

NM_198578.4

p.R1957C

c.5869C>T

2 papers

NM_198578.4

p.L1966_T1967del1

c.5898_5900delCAC

1 paper

NM_198578.4

p.T1967A

c.5899A>G

1 paper

NM_198578.4

p.T1969A

c.5905A>G

2 papers

NM_198578.4

p.G1953R

c.5857G>C

1 paper

NM_198578.4

p.S1951S

c.5853C>T

1 paper

NM_198578.4

p.A1950T

c.5848G>A