Varaico: Literature-Extracted Genetic Variants

Gene:WDR43
Variant:p.G230R

WDR43

41 papers

Pfam Domains

WD40aa 116–154UCSCWD domain, G-beta repeat
WD40aa 158–194UCSCWD domain, G-beta repeat
Utp12aa 473–577UCSCDip2/Utp12 Family

Gene Aliases

HGNC Name

WD repeat domain 43

HGNC Alias Symbols

KIAA0007; NET12; UTP5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015131.3
p.G230R
c.688G>A
Surrounding Variants
1 paper
NM_015131.3
p.G230R
c.688G>C
1 paper
NM_015131.3
p.G230E
c.689G>A
1 paper
NM_015131.3
p.D229Y
c.685G>T
1 paper
NM_015131.3
p.I219V
c.655A>G
1 paper
NM_015131.3
p.R244W
c.730C>T
1 paper
NM_015131.3
p.V248V
c.744C>T
1 paper
NM_015131.3
p.I190F
c.568A>T
1 paper
NM_015131.3
p.R188Q
c.563G>A
1 paper
NM_015131.3
p.G166G
c.498C>A
1 paper
NM_015131.3
p.C140W
c.420T>G
1 paper
NM_015131.3
p.I121_S122Splc
c.364-10T>A
1 paper
NM_015131.3
p.K286M
c.857A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."