Varaico: Literature-Extracted Genetic Variants

Gene:CNPPD1
Variant:p.K30M

CNPPD1

28 papers

Pfam Domains

Cyclinaa 65–174UCSCCyclin

Gene Aliases

HGNC Name

cyclin Pas1/PHO80 domain containing 1

HGNC Previous Symbol

C2orf24

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015680.6
p.K30M
c.89A>T
Surrounding Variants
1 paper
NM_015680.6
p.T23_F24Splc
c.70-38C>T
1 paper
NM_015680.6
p.T23_F24Splc
c.69+49G>T
1 paper
NM_015680.6
p.T23_F24Splc
c.69+27G>A
1 paper
NM_015680.6
p.G12S
c.34G>A
1 paper
NM_015680.6
p.L8P
c.23T>C
1 paper
NM_015680.6
p.A89T
c.265G>A
1 paper
NM_015680.6
p.I103T
c.308T>C
1 paper
NM_015680.6
p.D146N
c.436G>A
1 paper
NM_015680.6
p.E194K
c.580G>A
1 paper
NM_015680.6
p.W202*
c.605G>A
1 paper
NM_015680.6
p.W202*
c.606G>A
1 paper
NM_015680.6
p.T206R
c.617C>G
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