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.S1205_N1206insFs

c.3615_3616ins4

Surrounding Variants

1 paper

NM_198578.4

p.S1205C

c.3613A>T

2 papers

NM_198578.4

p.S1204N

c.3611G>A

1 paper

NM_198578.4

p.D1207delFs

c.3620delA

1 paper

NM_198578.4

p.I1208M

c.3624T>G

1 paper

NM_198578.4

p.Y1210F

c.3629A>T

1 paper

NM_198578.4

p.Y1210Y

c.3630C>T

1 paper

NM_198578.4

p.P1212S

c.3634C>T

1 paper

NM_198578.4

p.R1199Q

c.3596G>A

1 paper

NM_198578.4

p.P1212P

c.3636A>G

1 paper

NM_198578.4

p.L1198F

c.3594G>C

1 paper

NM_198578.4

p.L1198F

c.3594G>T

2 papers

NM_198578.4

p.G1213S

c.3637G>A