Varaico: Literature-Extracted Genetic Variants

WSB2

17 papers

RefSeq Summary

This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge be...

Pfam Domains

WD40aa 143–182UCSCWD domain, G-beta repeat

WD40aa 187–225UCSCWD domain, G-beta repeat

WD40aa 229–267UCSCWD domain, G-beta repeat

WD40aa 289–321UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat and SOCS box containing 2

HGNC Alias Symbols

SBA2; MGC10210

Papers

RefSeq ID

Protein change

DNA change

1–12 of 23 variants

1 paper

NM_018639.5

p.E5Splc

c.14-21G>A

1 paper

NM_018639.5

p.G16E

c.47G>A

1 paper

NM_018639.5

p.E28A

c.83A>C

1 paper

NM_018639.5

p.S39Y

c.116C>A

1 paper

NM_018639.5

p.W43*

c.128G>A

1 paper

NM_018639.5

p.W43*

c.129G>A

1 paper

NM_018639.5

p.E76*

c.226G>T

1 paper

NM_018639.5

p.S107N

c.320G>A

1 paper

NM_018639.5

p.D120N

c.358G>A

1 paper

NM_018639.5

p.G133W

c.397G>T

1 paper

NM_018639.5

p.G133R

c.397G>C

1 paper

NM_018639.5

p.G133R

c.397G>A