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.S1137N

c.3410G>A

Surrounding Variants

2 papers

NM_198578.4

p.K1138E

c.3412A>G

1 paper

NM_198578.4

p.L1136R

c.3407T>G

1 paper

NM_198578.4

p.N1139I

c.3416A>T

1 paper

NM_198578.4

p.N1139N

c.3417C>T

1 paper

NM_198578.4

p.L1134L

c.3402A>G

1 paper

NM_198578.4

p.I1141delFs

c.3421delA

1 paper

NM_198578.4

p.I1141fs

c.3421_3422fs

1 paper

NM_198578.4

p.I1133F

c.3397A>T

1 paper

NM_198578.4

p.I1141I

c.3423T>A

1 paper

NM_198578.4

p.K1132E

c.3394A>G

1 paper

NM_198578.4

p.L1131R

c.3392T>G

2 papers

NM_198578.4

p.S1143S

c.3429C>T