Varaico: Literature-Extracted Genetic Variants

Gene:CSPP1
Variant:p.R517*

CSPP1

108 papers

RefSeq Summary

This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocys...

Pfam Domains

CSPP1_Caa 884–938UCSCCentrosome and spindle pole-associated protein 1, C-terminal

Gene Aliases

HGNC Name

centrosome and spindle pole associated protein 1

HGNC Alias Symbols

FLJ22490; JBTS21; CSPP-L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001382391.1
p.R517*
c.1549C>T
Surrounding Variants
2 papers
NM_001382391.1
p.T514I
c.1541C>T
1 paper
NM_001382391.1
p.Y520_D521Fs
c.1558_1562delinsCFs
1 paper
NM_001382391.1
p.R499Splc
c.1497-2A>C
1 paper
NM_001382391.1
p.P549L
c.1646C>T
1 paper
NM_024790.6
p.Y547_V548insFs
c.1641_1642insA
1 paper
NM_001382391.1
p.A555T
c.1663G>A
1 paper
NM_001382391.1
p.V565delFs
c.1694delT
1 paper
NM_001382391.1
p.D483A
c.1448A>C
1 paper
NM_024790.6
p.S459C
c.1376C>G
2 papers
NM_001382391.1
p.P459R
c.1376C>G
1 paper
NM_001382391.1
p.Q457*
c.1369C>T
1 paper
NM_001382391.1
p.M446_P449del4
c.1336_1346del12
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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."