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.D1236Y

c.3706G>T

Surrounding Variants

1 paper

NM_198578.4

p.D1236G

c.3707A>G

1 paper

NM_198578.4

p.L1235F

c.3705G>C

1 paper

NM_198578.4

p.L1235F

c.3705G>T

1 paper

NM_198578.4

p.L1235W

c.3704T>G

1 paper

NM_198578.4

p.I1234T

c.3701T>C

1 paper

NM_198578.4

p.E1239A

c.3716A>C

1 paper

NM_198578.4

p.Q1231H

c.3693G>C

1 paper

NM_198578.4

p.Q1231H

c.3693G>T

1 paper

NM_198578.4

p.Q1231*

c.3691C>T

1 paper

NM_198578.4

p.A1241T

c.3721G>A

1 paper

NM_198578.4

p.A1241V

c.3722C>T

1 paper

NM_198578.4

p.H1229Q

c.3687T>A