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.G1663A

c.4988G>C

Surrounding Variants

1 paper

NM_198578.4

p.I1662M

c.4986A>G

1 paper

NM_198578.4

p.I1662T

c.4985T>C

1 paper

NM_198578.4

p.I1662V

c.4984A>G

1 paper

NM_198578.4

p.E1665*

c.4993G>T

1 paper

NM_198578.4

p.P1661Q

c.4982C>A

1 paper

NM_198578.4

p.P1661T

c.4981C>A

4 papers

NM_198578.4

p.Y1666H

c.4996T>C

3 papers

NM_198578.4

p.L1667W

c.5000T>G

1 paper

NM_198578.4

p.I1658F

c.4972A>T

1 paper

NM_198578.4

p.Q1657L

c.4970A>T

2 papers

NM_198578.4

p.Q1657*

c.4969C>T

1 paper

NM_198578.4

p.P1670L

c.5009C>T