Varaico: Literature-Extracted Genetic Variants

Gene:WDR47
Variant:p.R653H

WDR47

33 papers

Pfam Domains

LisH_TPLaa 11–40UCSCLisH-like dimerisation domain
WDR47_CORaa 191–260UCSCWDR47 cross-over region
WD40aa 597–633UCSCWD domain, G-beta repeat
WD40aa 650–687UCSCWD domain, G-beta repeat
WD40aa 745–782UCSCWD domain, G-beta repeat
WD40aa 790–828UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 47

HGNC Alias Symbol

KIAA0893

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001142551.2
p.R653H
c.1958G>A
Surrounding Variants
1 paper
NM_001142551.2
p.P650L
c.1949C>T
1 paper
NM_001142551.2
p.H659P
c.1976A>C
1 paper
NM_001142551.2
p.H660P
c.1979A>C
1 paper
NM_001142551.2
p.S642Splc
c.1926-43C>T
1 paper
NM_014969.6
p.V686I
c.2056G>A
1 paper
NM_001142551.2
p.T763I
c.2288C>T
1 paper
NM_001142551.2
p.S771F
c.2312C>T
1 paper
NM_001142551.2
p.G798R
c.2392G>C
1 paper
NM_001142551.2
p.G798R
c.2392G>A
1 paper
NM_001142551.2
p.D605Y
c.1813G>T
1 paper
NM_001142551.2
p.K592R
c.1775A>G
1 paper
NM_001142551.2
p.G576*
c.1726G>T
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