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

2 papers

NM_198578.4

p.V1340M

c.4018G>A

Surrounding Variants

5 papers

NM_198578.4

p.I1339M

c.4017T>G

2 papers

NM_198578.4

p.I1339T

c.4016T>C

1 paper

NM_198578.4

p.G1341V

c.4022G>T

1 paper

NM_198578.4

p.I1339_V1340delFs

c.4015_4018del4

5 papers

NM_198578.4

p.T1343A

c.4027A>G

1 paper

NM_198578.4

p.T1343S

c.4027A>T

1 paper

NM_198578.4

p.T1343S

c.4028C>G

3 papers

NM_198578.4

p.G1344R

c.4030G>A

3 papers

NM_198578.4

p.G1344R

c.4030G>C

1 paper

NM_198578.4

p.M1335I

c.4005G>A

1 paper

NM_198578.4

p.M1335I

c.4005G>C

1 paper

NM_198578.4

p.M1335I

c.4005G>T