Varaico: Literature-Extracted Genetic Variants

Gene:WDR47
Variant:p.L914I

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
1 paper
NM_001142551.2
p.L914I
c.2740C>A
Surrounding Variants
1 paper
NM_001142551.2
p.L879P
c.2636T>C
1 paper
NM_001142551.2
p.L857V
c.2569T>G
1 paper
NM_001142551.2
p.V806L
c.2416G>C
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