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.C2024S

c.6070T>A

Surrounding Variants

1 paper

NM_198578.4

p.C2024S

c.6071G>C

1 paper

NM_198578.4

p.C2025S

c.6073T>A

1 paper

NM_198578.4

p.C2025S

c.6074G>C

1 paper

NM_198578.4

p.R2026delFs

c.6077_6078delGA

1 paper

NM_198578.4

p.R2026K

c.6077G>A

810 papers

NM_198578.4

p.I2020T

c.6059T>C

3 papers

NM_198578.4

p.I2020S

c.6059T>G

5 papers

NM_198578.4

p.I2020L

c.6058A>C

1 paper

NM_198578.4

p.G2028R

c.6082G>A

1 paper

NM_198578.4

p.G2028R

c.6082G>C

3 papers

NM_198578.4

p.G2019D

c.6056G>A

1 paper

NM_198578.4

p.G2028G

c.6084G>A