Varaico: Literature-Extracted Genetic Variants

Gene:WDR53

WDR53

24 papers

RefSeq Summary

This gene encodes a protein containing WD domains. The function of this gene is unknown. [provided by RefSeq, Jul 2008].

Pfam Domains

ANAPC4_WD40aa 68–147UCSCAnaphase-promoting complex subunit 4 WD40 domain
WD40aa 230–269UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 53

HGNC Alias Symbols

MGC64882; MGC12928

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
2 papers
NM_182627.3
p.R47W
c.139C>T
2 papers
NM_182627.3
p.S60C
c.179C>G
1 paper
NM_182627.3
p.T6M
c.17C>T
1 paper
NM_182627.3
p.V13L
c.37G>C
1 paper
NM_182627.3
p.A18S
c.52G>T
1 paper
NM_182627.3
p.A25insFs
c.74_75insA
1 paper
NM_182627.3
p.S26fs
c.76_77fs
1 paper
NM_182627.3
p.G37C
c.109G>T
1 paper
NM_182627.3
p.L58insFs
c.173dupT
1 paper
NM_182627.3
p.S60F
c.179C>T
1 paper
NM_182627.3
p.T74_I75insA
c.220_224ins3
1 paper
NM_182627.3
p.E124G
c.371A>G
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