Varaico: Literature-Extracted Genetic Variants

Gene:DEUP1
Variant:p.K97N

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.K97N
c.291G>T
Surrounding Variants
1 paper
NM_181645.4
p.K97N
c.291G>C
1 paper
NM_181645.4
p.Q94R
c.281A>G
1 paper
NM_181645.4
p.Q87_N88delFs
c.260_263del4
1 paper
NM_181645.4
p.L83S
c.248T>C
1 paper
NM_181645.4
p.R72Q
c.215G>A
1 paper
NM_181645.4
p.K64Q
c.190A>C
1 paper
NM_181645.4
p.Q63K
c.187C>A
1 paper
NM_181645.4
p.Q52*
c.154C>T
1 paper
NM_181645.4
p.E17A
c.50A>C
1 paper
NM_181645.4
p.T104T
c.312A>G
2 papers
NM_181645.4
p.R122*
c.364C>T
1 paper
NM_181645.4
p.S137G
c.409A>G
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