Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.R116R

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.R116R
c.348G>C
Surrounding Variants
1 paper
NM_001100619.3
p.P128L
c.383C>T
1 paper
NM_001100619.3
p.G99C
c.295G>T
1 paper
NM_001100619.3
p.A98G
c.293C>G
2 papers
NM_001100619.3
p.G99_A101del0
c.295_303del9
1 paper
NM_001100619.3
p.A83T
c.247G>A
1 paper
NM_001100619.3
p.P151L
c.452C>T
1 paper
NM_001100619.3
p.T156S
c.466A>T
1 paper
NM_001100619.3
p.D75D
c.225C>T
1 paper
NM_001100619.3
p.A163_R164insFs
c.489_490ins5
1 paper
NM_001100619.3
p.P59insFs
c.176_177ins19
1 paper
NM_001100619.3
p.D58G
c.173A>G
1 paper
NM_001100619.3
p.S176S
c.528G>T
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