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

1–12 of 2438 variants

3282 papers

NM_198578.4

p.G2019S

c.6055G>A

1190 papers

NM_198578.4

p.R1441C

c.4321C>T

920 papers

NM_198578.4

p.R1441G

c.4321C>G

810 papers

NM_198578.4

p.I2020T

c.6059T>C

713 papers

NM_198578.4

p.Y1699C

c.5096A>G

634 papers

NM_198578.4

p.G2385R

c.7153G>A

633 papers

NM_198578.4

p.G2385R

c.7153G>C

375 papers

NM_198578.4

p.R1628P

c.4883G>C

356 papers

NM_198578.4

p.R1441H

c.4322G>A

277 papers

NM_198578.4

p.N1437H

c.4309A>C

188 papers

NM_198578.4

p.K18M

c.53A>T

160 papers

NM_198578.4

p.R1398H

c.4193G>A