Varaico: Literature-Extracted Genetic Variants

WSB1

31 papers

RefSeq Summary

This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOC...

Pfam Domains

WD40aa 160–199UCSCWD domain, G-beta repeat

WD40aa 204–242UCSCWD domain, G-beta repeat

WD40aa 246–284UCSCWD domain, G-beta repeat

WD40aa 301–339UCSCWD domain, G-beta repeat

WD40aa 351–379UCSCWD domain, G-beta repeat

SOCS_boxaa 383–418UCSCSOCS box

Gene Aliases

HGNC Name

WD repeat and SOCS box containing 1

HGNC Alias Symbols

DKFZp564A122; DKFZp564B0482; SWIP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015626.10

p.Q214R

c.641A>G

Surrounding Variants

1 paper

NM_015626.10

p.D181H

c.541G>C

1 paper

NM_015626.10

p.A237_V238Splc

c.712-179C>G

1 paper

NM_015626.10

p.R250W

c.748C>T

1 paper

NM_015626.10

p.Y281C

c.842A>G

1 paper

NM_015626.10

p.T302A

c.904A>G

1 paper

NM_015626.10

p.V127E

c.380T>A

1 paper

NM_015626.10

p.D311N

c.931G>A

2 papers

NM_015626.10

p.W111G

c.331T>G

1 paper

NM_015626.10

p.L329I

c.985C>A

1 paper

NM_015626.10

p.R100H

c.299G>A

1 paper

NM_015626.10

p.R100G

c.298C>G

1 paper

NM_015626.10

p.R88I

c.263G>T