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

1–12 of 27 variants

3 papers

NM_015626.10

p.L16S

c.47T>C

2 papers

NM_015626.10

p.W111G

c.331T>G

1 paper

NM_015626.10

p.P25P

c.75T>A

1 paper

NM_015626.10

p.L72S

c.215T>C

1 paper

NM_015626.10

p.T75A

c.223A>G

1 paper

NM_015626.10

p.R88I

c.263G>T

1 paper

NM_015626.10

p.R100G

c.298C>G

1 paper

NM_015626.10

p.R100H

c.299G>A

1 paper

NM_015626.10

p.V127E

c.380T>A

1 paper

NM_015626.10

p.D181H

c.541G>C

1 paper

NM_015626.10

p.Q214R

c.641A>G

1 paper

NM_015626.10

p.A237_V238Splc

c.712-179C>G