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.V748L

c.2242G>C

Surrounding Variants

1 paper

NM_198578.4

p.V748L

c.2242G>T

1 paper

NM_198578.4

p.C749Y

c.2246G>A

1 paper

NM_198578.4

p.E752D

c.2256G>C

1 paper

NM_198578.4

p.E752D

c.2256G>T

1 paper

NM_198578.4

p.S754R

c.2260A>C

1 paper

NM_198578.4

p.S754R

c.2262T>A

1 paper

NM_198578.4

p.S754R

c.2262T>G

1 paper

NM_198578.4

p.P755S

c.2263C>T

47 papers

NM_198578.4

p.P755L

c.2264C>T

3 papers

NM_198578.4

p.Q747_V748Splc

c.2242-22C>T

1 paper

NM_198578.4

p.K756E

c.2266A>G

2 papers

NM_198578.4

p.Q747_V748Splc

c.2242-27A>G