Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.E50*

CABLES1

50 papers

RefSeq Summary

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts fr...

Pfam Domains

Cyclin_Naa 493–616UCSCCyclin, N-terminal domain

Gene Aliases

HGNC Name

Cdk5 and Abl enzyme substrate 1

HGNC Alias Symbols

HsT2563; FLJ35924

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100619.3
p.E50*
c.148G>T
Surrounding Variants
1 paper
NM_001100619.3
p.R56C
c.166C>T
1 paper
NM_001100619.3
p.D58G
c.173A>G
1 paper
NM_001100619.3
p.P59insFs
c.176_177ins19
1 paper
NM_001100619.3
p.P33P
c.99G>C
1 paper
NM_001100619.3
p.P33Q
c.98C>A
1 paper
NM_001100619.3
p.P33del1
c.97_99delCCG
1 paper
NM_001100619.3
p.L28L
c.84G>A
1 paper
NM_001100619.3
p.D75D
c.225C>T
1 paper
NM_001100619.3
p.G24D
c.71G>A
1 paper
NM_001100619.3
p.G19insFs
c.56_57ins13
1 paper
NM_001100619.3
p.A83T
c.247G>A
1 paper
NM_001100619.3
p.C13insFs
c.37_38ins4
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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."