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

3 papers

NM_198578.4

p.E1632Q

c.4894G>C

Surrounding Variants

2 papers

NM_198578.4

p.E1632A

c.4895A>C

1 paper

NM_198578.4

p.D1630Y

c.4888G>T

1 paper

NM_198578.4

p.R1629S

c.4887A>C

1 paper

NM_198578.4

p.F1634S

c.4901T>C

10 papers

NM_198578.4

p.R1628H

c.4883G>A

375 papers

NM_198578.4

p.R1628P

c.4883G>C

2 papers

NM_198578.4

p.R1628L

c.4883G>T

4 papers

NM_198578.4

p.R1628C

c.4882C>T

2 papers

NM_198578.4

p.S1636A

c.4906T>G

4 papers

NM_198578.4

p.S1636fs

c.4906_4907fs

1 paper

NM_198578.4

p.S1636*

c.4907C>A

1 paper

NM_198578.4

p.R1639insFs

c.4915dupA