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.Q1365Q

c.4095A>G

Surrounding Variants

2 papers

NM_198578.4

p.Q1365R

c.4094A>G

1 paper

NM_198578.4

p.A1367V

c.4100C>T

1 paper

NM_198578.4

p.T1368A

c.4102A>G

1 paper

NM_198578.4

p.G1363E

c.4088G>A

1 paper

NM_198578.4

p.T1368T

c.4104A>G

1 paper

NM_198578.4

p.V1369A

c.4106T>C

112 papers

NM_198578.4

p.I1371V

c.4111A>G

1 paper

NM_198578.4

p.S1360*

c.4079C>A

1 paper

NM_198578.4

p.S1360*

c.4079C>G

1 paper

NM_198578.4

p.I1371T

c.4112T>C

1 paper

NM_198578.4

p.I1371M

c.4113A>G

1 paper

NM_198578.4

p.K1359I

c.4076A>T