Varaico: Literature-Extracted Genetic Variants

Gene:DEUP1
Variant:p.R493I

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
2 papers
NM_181645.4
p.R493I
c.1478G>T
Surrounding Variants
1 paper
NM_181645.4
p.Y488N
c.1462T>A
1 paper
NM_181645.4
p.Q504K
c.1510C>A
1 paper
NM_181645.4
p.R453G
c.1357A>G
1 paper
NM_181645.4
p.M442_S443Splc
c.1327-162G>A
2 papers
NM_181645.4
p.S526L
c.1577C>T
1 paper
NM_181645.4
p.Q529*
c.1585C>T
1 paper
NM_181645.4
p.A530T
c.1588G>A
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