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.I2434T

c.7301T>C

Surrounding Variants

1 paper

NM_198578.4

p.I2434fs

c.7300_7301fs

1 paper

NM_198578.4

p.I2434insFs

c.7301_7302insT

3 papers

NM_198578.4

p.I2434V

c.7300A>G

3 papers

NM_198578.4

p.G2432G

c.7296C>G

1 paper

NM_198578.4

p.L2436L

c.7308C>G

1 paper

NM_198578.4

p.L2437L

c.7311G>A

1 paper

NM_198578.4

p.G2430R

c.7288G>A

1 paper

NM_198578.4

p.G2430R

c.7288G>C

9 papers

NM_198578.4

p.L2439I

c.7315C>A

1 paper

NM_198578.4

p.T2429T

c.7287T>C

1 paper

NM_198578.4

p.I2427M

c.7281A>G

1 paper

NM_198578.4

p.I2427K

c.7280T>A