Varaico: Literature-Extracted Genetic Variants

Gene:DEUP1
Variant:p.S333*

DEUP1

56 papers

Pfam Domains

CEP63aa 11–280UCSCCentrosomal protein of 63 kDa
CC_CEP152-bindaa 560–595UCSCCEP63/DEUP1, CEP152 binding coiled coil

Gene Aliases

HGNC Name

deuterosome assembly protein 1

HGNC Previous Symbol

CCDC67

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181645.4
p.S333*
c.998C>G
Surrounding Variants
1 paper
NM_181645.4
p.S333*
c.998C>A
1 paper
NM_181645.4
p.E342G
c.1025A>G
1 paper
NM_181645.4
p.H294N
c.880C>A
1 paper
NM_181645.4
p.L276I
c.826T>A
1 paper
NM_181645.4
p.V272I
c.814G>A
1 paper
NM_181645.4
p.V355V
c.1065G>A
1 paper
NM_181645.4
p.S361S
c.1083T>G
1 paper
NM_181645.4
p.E362E
c.1086G>A
1 paper
NM_181645.4
p.E369K
c.1105G>A
1 paper
NM_181645.4
p.I370I
c.1110C>T
1 paper
NM_181645.4
p.D372delFs
c.1116delC
1 paper
NM_181645.4
p.T386T
c.1158T>G
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