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.A1904T

c.5710G>A

Surrounding Variants

3 papers

NM_198578.4

p.A1904D

c.5711C>A

2 papers

NM_198578.4

p.V1905A

c.5714T>C

1 paper

NM_198578.4

p.V1905G

c.5714T>G

1 paper

NM_198578.4

p.E1902V

c.5705A>T

1 paper

NM_198578.4

p.E1902*

c.5704G>T

9 papers

NM_198578.4

p.K1906R

c.5717A>G

1 paper

NM_198578.4

p.E1901E

c.5703A>G

116 papers

NM_198578.4

p.K1906M

c.5717A>T

2 papers

NM_198578.4

p.K1906N

c.5718G>C

2 papers

NM_198578.4

p.K1906N

c.5718G>T

1 paper

NM_198578.4

p.E1901K

c.5701G>A

3 papers

NM_198578.4

p.G1900E

c.5699G>A