Varaico: Literature-Extracted Genetic Variants

WDR33

91 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

WD40aa 151–189UCSCWD domain, G-beta repeat

WD40aa 192–230UCSCWD domain, G-beta repeat

WD40aa 234–267UCSCWD domain, G-beta repeat

WD40aa 278–316UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 33

HGNC Alias Symbols

FLJ11294; WDC146; NET14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_018383.5

p.R1196C

c.3586C>T

Surrounding Variants

1 paper

NM_018383.5

p.R1216C

c.3646C>T

1 paper

NM_018383.5

p.S1217P

c.3649T>C

1 paper

NM_018383.5

p.S1218F

c.3653C>T

1 paper

NM_018383.5

p.E1243Q

c.3727G>C

1 paper

NM_018383.5

p.M1247I

c.3741G>T

1 paper

NM_018383.5

p.M1247I

c.3741G>C

1 paper

NM_018383.5

p.M1247I

c.3741G>A

1 paper

NM_018383.5

p.E1248K

c.3742G>A

1 paper

NM_018383.5

p.G1251R

c.3751G>C

1 paper

NM_018383.5

p.G1251R

c.3751G>A

1 paper

NM_018383.5

p.R1172C

c.3514C>T

1 paper

NM_018383.5

p.S1278ins0

c.3832_3834dupAGC