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.L23insFs

c.68_69insCG

Surrounding Variants

1 paper

NM_198578.4

p.L23P

c.68T>C

1 paper

NM_198578.4

p.N24insFs

c.70_71ins4

1 paper

NM_198578.4

p.R22S

c.66G>C

1 paper

NM_198578.4

p.R22S

c.66G>T

1 paper

NM_198578.4

p.N24S

c.71A>G

1 paper

NM_198578.4

p.N24delFs

c.72delC

1 paper

NM_198578.4

p.R22_L23insFs

c.66_67insCG

1 paper

NM_198578.4

p.R22G

c.64A>G

1 paper

NM_198578.4

p.N24N

c.72C>T

1 paper

NM_198578.4

p.N25S

c.74A>G

1 paper

NM_198578.4

p.V21A

c.62T>C

3 papers

NM_198578.4

p.N25K

c.75T>A