Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.R306Splc

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.R306Splc
c.917+109A>G
Surrounding Variants
1 paper
NM_001100619.3
p.R306Splc
c.917+83C>T
1 paper
NM_001100619.3
p.R306Splc
c.917+65G>T
1 paper
NM_001100619.3
p.R306Splc
c.917+176A>G
1 paper
NM_001100619.3
p.R305Q
c.914G>A
1 paper
NM_001100619.3
p.L295_P303del9
c.883_908del27
1 paper
NM_001100619.3
p.S291_E293del0
c.872_877del6
2 papers
NM_001100619.3
p.R289K
c.866G>A
1 paper
NM_001100619.3
p.R289_D297del9
c.865_890del27
1 paper
NM_001100619.3
p.R282Splc
c.846-135T>C
1 paper
NM_001100619.3
p.R306Splc
c.918-94A>G
1 paper
NM_001100619.3
p.R306Splc
c.918-44C>T
3 papers
NM_001100619.3
p.G312D
c.935G>A
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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."