Varaico: Literature-Extracted Genetic Variants

Gene:WDR83
Variant:p.E120D

WDR83

15 papers

RefSeq Summary

This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several compon...

Pfam Domains

WD40aa 15–53UCSCWD domain, G-beta repeat
WD40aa 57–95UCSCWD domain, G-beta repeat
WD40aa 99–137UCSCWD domain, G-beta repeat
WD40aa 183–219UCSCWD domain, G-beta repeat
WD40aa 223–263UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 83

HGNC Alias Symbol

MORG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001099737.3
p.E120D
c.360G>T
Surrounding Variants
1 paper
NM_001099737.3
p.E120D
c.360G>C
2 papers
NM_001099737.3
p.G127R
c.379G>C
1 paper
NM_001099737.3
p.G127A
c.380G>C
1 paper
NM_001099737.3
p.I129V
c.385A>G
1 paper
NM_001099737.3
p.D130Y
c.388G>T
1 paper
NM_001099737.3
p.C135fs
c.403_404fs
1 paper
NM_001099737.3
p.E144Q
c.430G>C
1 paper
NM_001099737.3
p.V102E
c.305T>A
1 paper
NM_001099737.3
p.D212G
c.635A>G
1 paper
NM_001099737.3
p.L218P
c.653T>C
1 paper
NM_001099737.3
p.R246C
c.736C>T
1 paper
NM_001099737.3
p.W262R
c.784T>A
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