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.L1554L

c.4660T>C

Surrounding Variants

1 paper

NM_198578.4

p.L1553F

c.4659A>C

1 paper

NM_198578.4

p.L1553F

c.4659A>T

1 paper

NM_198578.4

p.L1554S

c.4661T>C

2 papers

NM_198578.4

p.L1556I

c.4666C>A

3 papers

NM_198578.4

p.R1552*

c.4654C>T

1 paper

NM_198578.4

p.R1550L

c.4649G>T

1 paper

NM_198578.4

p.R1558G

c.4672A>G

1 paper

NM_198578.4

p.R1550W

c.4648C>T

1 paper

NM_198578.4

p.D1549D

c.4647C>T

1 paper

NM_198578.4

p.Q1561*

c.4681C>T

1 paper

NM_198578.4

p.Q1561R

c.4682A>G

1 paper

NM_198578.4

p.F1545L

c.4635T>A