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.I1626T

c.4877T>C

Surrounding Variants

4 papers

NM_198578.4

p.I1626V

c.4876A>G

1 paper

NM_198578.4

p.S1627T

c.4879T>A

1 paper

NM_198578.4

p.S1627A

c.4879T>G

4 papers

NM_198578.4

p.S1627L

c.4880C>T

21 papers

NM_198578.4

p.G1624G

c.4872C>A

4 papers

NM_198578.4

p.R1628C

c.4882C>T

1 paper

NM_198578.4

p.G1624_I1626delins

c.4872_4876delinsAATTG

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

1 paper

NM_198578.4

p.R1629S

c.4887A>C

1 paper

NM_198578.4

p.K1623E

c.4867A>G