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.Y1649S

c.4946A>C

Surrounding Variants

1 paper

NM_198578.4

p.Y1649F

c.4946A>T

1 paper

NM_198578.4

p.F1650L

c.4948T>C

1 paper

NM_198578.4

p.Q1648P

c.4943A>C

6 papers

NM_198578.4

p.Q1648R

c.4943A>G

1 paper

NM_198578.4

p.Q1648L

c.4943A>T

1 paper

NM_198578.4

p.F1650L

c.4950T>A

1 paper

NM_198578.4

p.F1650L

c.4950T>G

112 papers

NM_198578.4

p.S1647T

c.4939T>A

92 papers

NM_198578.4

p.M1646T

c.4937T>C

1 paper

NM_198578.4

p.Y1645S

c.4934A>C

1 paper

NM_198578.4

p.Y1645C

c.4934A>G

1 paper

NM_198578.4

p.L1653L

c.4959A>G