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

130 papers

NM_198578.4

p.N551K

c.1653C>A

Surrounding Variants

131 papers

NM_198578.4

p.N551K

c.1653C>G

1 paper

NM_198578.4

p.R552K

c.1655G>A

1 paper

NM_198578.4

p.R552_F553Splc

c.1656+1G>A

5 papers

NM_198578.4

p.L550W

c.1649T>G

1 paper

NM_198578.4

p.L545L

c.1633C>T

1 paper

NM_198578.4

p.K544R

c.1631A>G

22 papers

NM_198578.4

p.K544E

c.1630A>G

1 paper

NM_198578.4

p.H543R

c.1628A>G

1 paper

NM_198578.4

p.N540N

c.1620T>C

1 paper

NM_198578.4

p.K539N

c.1617G>C

3 papers

NM_198578.4

p.K539R

c.1616A>G

2 papers

NM_198578.4

p.K539Q

c.1615A>C