Varaico: Literature-Extracted Genetic Variants

Gene:WDR33
Variant:p.M677V

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 192–230UCSCWD domain, G-beta repeat
WD40aa 234–267UCSCWD 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
4 papers
NM_018383.5
p.M677V
c.2029A>G
Surrounding Variants
1 paper
NM_018383.5
p.G673W
c.2017G>T
2 papers
NM_018383.5
p.P658S
c.1972C>T
1 paper
NM_018383.5
p.G648delFs
c.1944delC
1 paper
NM_018383.5
p.G648fs
c.1942_1943fs
1 paper
NM_018383.5
p.P707A
c.2119C>G
1 paper
NM_018383.5
p.Q644E
c.1930C>G
1 paper
NM_018383.5
p.G633E
c.1898G>A
1 paper
NM_018383.5
p.P629S
c.1885C>T
1 paper
NM_018383.5
p.P735A
c.2203C>G
1 paper
NM_018383.5
p.P589L
c.1766C>T
1 paper
NM_018383.5
p.P589S
c.1765C>T
1 paper
NM_018383.5
p.P587S
c.1759C>T
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