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.P1942_R1943delins

c.5826_5827delinsTT

Surrounding Variants

3 papers

NM_198578.4

p.R1943W

c.5827C>T

1 paper

NM_198578.4

p.R1943Q

c.5828G>A

40 papers

NM_198578.4

p.R1941H

c.5822G>A

1 paper

NM_198578.4

p.R1941C

c.5821C>T

1 paper

NM_198578.4

p.A1938V

c.5813C>T

1 paper

NM_198578.4

p.E1948Q

c.5842G>C

1 paper

NM_198578.4

p.L1935F

c.5805G>C

1 paper

NM_198578.4

p.L1935F

c.5805G>T

1 paper

NM_198578.4

p.A1950T

c.5848G>A

1 paper

NM_198578.4

p.S1934F

c.5801C>T

1 paper

NM_198578.4

p.S1934P

c.5800T>C

1 paper

NM_198578.4

p.I1933I

c.5799A>T