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.T1048R

c.3143C>G

Surrounding Variants

2 papers

NM_198578.4

p.S1049*

c.3146C>A

2 papers

NM_198578.4

p.S1049*

c.3146C>G

1 paper

NM_198578.4

p.K1046T

c.3137A>C

1 paper

NM_198578.4

p.S1052delFs

c.3155_3156delCT

1 paper

NM_198578.4

p.S1052fs

c.3154_3155fs

1 paper

NM_198578.4

p.S1052Y

c.3155C>A

1 paper

NM_198578.4

p.Y1053S

c.3158A>C

1 paper

NM_198578.4

p.H1043N

c.3127C>A

1 paper

NM_198578.4

p.L1054F

c.3162G>C

1 paper

NM_198578.4

p.L1054F

c.3162G>T

1 paper

NM_198578.4

p.D1041G

c.3122A>G

1 paper

NM_198578.4

p.M1057V

c.3169A>G