Varaico: Literature-Extracted Genetic Variants

Gene:CSTPP1
Variant:p.S319N

CSTPP1

20 papers

Pfam Domains

CSTPP1_Naa 8–57UCSCCSTPP1 N-terminal domain

Gene Aliases

HGNC Name

centriolar satellite-associated tubulin polyglutamylase complex regulator 1

HGNC Previous Symbol

C11orf49

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024113.5
p.S319N
c.956G>A
Surrounding Variants
2 papers
NM_024113.5
p.D327E
c.981C>A
2 papers
NM_024113.5
p.D327E
c.981C>G
1 paper
NM_024113.5
p.L274Splc
c.822-30G>A
1 paper
NM_024113.5
p.R273P
c.818G>C
2 papers
NM_024113.5
p.V197M
c.589G>A
1 paper
NM_024113.5
p.T193T
c.579G>A
1 paper
NM_024113.5
p.S178F
c.533C>T
1 paper
NM_024113.5
p.S177L
c.530C>T
1 paper
NM_024113.5
p.A142G
c.425C>G
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