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.A1417V

c.4250C>T

Surrounding Variants

1 paper

NM_198578.4

p.V1418V

c.4254C>T

1 paper

NM_198578.4

p.Y1415S

c.4244A>C

2 papers

NM_198578.4

p.Y1419C

c.4256A>G

4 papers

NM_198578.4

p.D1420N

c.4258G>A

2 papers

NM_198578.4

p.D1420H

c.4258G>C

15 papers

NM_198578.4

p.A1413T

c.4237G>A

1 paper

NM_198578.4

p.S1422R

c.4264A>C

1 paper

NM_198578.4

p.S1422R

c.4266C>A

1 paper

NM_198578.4

p.S1422R

c.4266C>G

2 papers

NM_198578.4

p.R1412*

c.4234C>T

17 papers

NM_198578.4

p.K1423K

c.4269G>A

1 paper

NM_198578.4

p.K1423N

c.4269G>C