Varaico: Literature-Extracted Genetic Variants

LRWD1

175 papers

RefSeq Summary

The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and...

Pfam Domains

LRR_1aa 48–68UCSCLeucine Rich Repeat

WD_LRWD1aa 263–647UCSCLeucine-rich repeat and WD repeat-containing protein 1, WD domain

Gene Aliases

HGNC Name

leucine rich repeats and WD repeat domain containing 1

HGNC Alias Symbols

DKFZp434K1815; ORCA; CENP-33

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152892.3

p.M1I

c.3G>C

Surrounding Variants

1 paper

NM_152892.3

p.M1I

c.3G>A

1 paper

NM_152892.3

p.M1I

c.3G>T

2 papers

NM_152892.3

p.L4I

c.10C>A

1 paper

NM_152892.3

p.L4H

c.11T>A

1 paper

NM_152892.3

p.S5*

c.14C>A

1 paper

NM_152892.3

p.R12S

c.34C>A

1 paper

NM_152892.3

p.P15H

c.44C>A

2 papers

NM_152892.3

p.K16R

c.47A>G

1 paper

NM_152892.3

p.D18V

c.53A>T

1 paper

NM_152892.3

p.K22fs

c.64_65fs

1 paper

NM_152892.3

p.R45fs

c.133_134fs

1 paper

NM_152892.3

p.R45_L49delFs

c.134_146del13