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.L1126L

c.3376T>C

Surrounding Variants

3 papers

NM_198578.4

p.C1123S

c.3368G>C

3 papers

NM_198578.4

p.C1123S

c.3367T>A

1 paper

NM_198578.4

p.I1122T

c.3365T>C

79 papers

NM_198578.4

p.I1122V

c.3364A>G

1 paper

NM_198578.4

p.G1121G

c.3363G>A

1 paper

NM_198578.4

p.L1131R

c.3392T>G

1 paper

NM_198578.4

p.K1132E

c.3394A>G

1 paper

NM_198578.4

p.S1120P

c.3358T>C

1 paper

NM_198578.4

p.I1119M

c.3357A>G

1 paper

NM_198578.4

p.I1133F

c.3397A>T

1 paper

NM_198578.4

p.N1117S

c.3350A>G

1 paper

NM_198578.4

p.L1134L

c.3402A>G