Varaico: Literature-Extracted Genetic Variants

Gene:CSTPP1

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
1–12 of 22 variants
2 papers
NM_024113.5
p.H19R
c.56A>G
2 papers
NM_024113.5
p.V197M
c.589G>A
2 papers
NM_024113.5
p.D327E
c.981C>A
2 papers
NM_024113.5
p.D327E
c.981C>G
1 paper
NM_001278222.1
p.S24*
c.71C>G
1 paper
NM_024113.5
p.M1V
c.1A>G
1 paper
NM_024113.5
p.M1T
c.2T>C
1 paper
NM_024113.5
p.Y14*
c.42T>A
1 paper
NM_024113.5
p.Y14*
c.42T>G
1 paper
NM_024113.5
p.L15V
c.43C>G
1 paper
NM_024113.5
p.E36Q
c.106G>C
1 paper
NM_024113.5
p.T48A
c.142A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."