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.I1060F

c.3178A>T

Surrounding Variants

1 paper

NM_198578.4

p.I1060M

c.3180T>G

3 papers

NM_198578.4

p.N1062H

c.3184A>C

2 papers

NM_198578.4

p.M1057I

c.3171G>A

2 papers

NM_198578.4

p.M1057I

c.3171G>C

2 papers

NM_198578.4

p.M1057I

c.3171G>T

1 paper

NM_198578.4

p.M1057V

c.3169A>G

1 paper

NM_198578.4

p.D1064Y

c.3190G>T

1 paper

NM_198578.4

p.L1054F

c.3162G>C

1 paper

NM_198578.4

p.L1054F

c.3162G>T

1 paper

NM_198578.4

p.S1066P

c.3196T>C

1 paper

NM_198578.4

p.Y1053S

c.3158A>C

51 papers

NM_198578.4

p.R1067Q

c.3200G>A