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.N2081I

c.6242A>T

Surrounding Variants

97 papers

NM_198578.4

p.N2081D

c.6241A>G

1 paper

NM_198578.4

p.N2081Y

c.6241A>T

1 paper

NM_198578.4

p.E2082D

c.6246G>C

1 paper

NM_198578.4

p.E2082D

c.6246G>T

1 paper

NM_198578.4

p.F2079L

c.6237T>A

1 paper

NM_198578.4

p.F2083L

c.6247T>C

1 paper

NM_198578.4

p.F2079L

c.6237T>G

1 paper

NM_198578.4

p.F2083L

c.6249T>A

1 paper

NM_198578.4

p.F2079L

c.6235T>C

1 paper

NM_198578.4

p.F2083L

c.6249T>G

1 paper

NM_198578.4

p.D2084H

c.6250G>C

1 paper

NM_198578.4

p.L2077L

c.6231G>A