Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.E178K

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
3 papers
NM_001100619.3
p.E178K
c.532G>A
Surrounding Variants
1 paper
NM_001100619.3
p.S176S
c.528G>T
1 paper
NM_001100619.3
p.A189A
c.567C>A
1 paper
NM_001100619.3
p.A163_R164insFs
c.489_490ins5
1 paper
NM_001100619.3
p.T156S
c.466A>T
1 paper
NM_001100619.3
p.P151L
c.452C>T
1 paper
NM_001100619.3
p.E206*
c.616G>T
1 paper
NM_001100619.3
p.D211fs
c.631_632fs
1 paper
NM_001100619.3
p.D212G
c.635A>G
1 paper
NM_001100619.3
p.A213S
c.637G>T
2 papers
NM_001100619.3
p.A213_I215del0
c.638_643del6
2 papers
NM_001100619.3
p.I215fs
c.643_644fs
2 papers
NM_001100619.3
p.I215insFs
c.644_645insG
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