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.D12delFs

c.35delA

Surrounding Variants

1 paper

NM_198578.4

p.E11A

c.32A>C

3 papers

NM_198578.4

p.E11G

c.32A>G

1 paper

NM_198578.4

p.E11V

c.32A>T

1 paper

NM_198578.4

p.E13_Q27del15

c.37_80del45

5 papers

NM_198578.4

p.E10E

c.30A>G

1 paper

NM_198578.4

p.E13G

c.38A>G

1 paper

NM_198578.4

p.E13E

c.39G>A

1 paper

NM_198578.4

p.E13D

c.39G>T

14 papers

NM_198578.4

p.E10K

c.28G>A

1 paper

NM_198578.4

p.E14K

c.40G>A

1 paper

NM_198578.4

p.E10*

c.28G>T

1 paper

NM_198578.4

p.E10delFs

c.30delA