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.T2069S

c.6205A>T

Surrounding Variants

1 paper

NM_198578.4

p.T2069S

c.6206C>G

1 paper

NM_198578.4

p.T2068A

c.6202A>G

1 paper

NM_198578.4

p.G2070G

c.6210A>C

2 papers

NM_198578.4

p.G2071D

c.6212G>A

1 paper

NM_198578.4

p.R2072T

c.6215G>C

1 paper

NM_198578.4

p.D2065V

c.6194A>T

2 papers

NM_198578.4

p.V2074I

c.6220G>A

1 paper

NM_198578.4

p.L2063fs

c.6187_6188fs

1 paper

NM_198578.4

p.L2062fs

c.6184_6185fs

1 paper

NM_198578.4

p.G2076S

c.6226G>A

4 papers

NM_198578.4

p.L2062_L2063delFs

c.6184_6188del5

1 paper

NM_198578.4

p.L2077L

c.6231G>A