Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.K496E

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.K496E
c.1486A>G
Surrounding Variants
1 paper
NM_001100619.3
p.D497G
c.1490A>G
1 paper
NM_001100619.3
p.S518Splc
c.1553+4C>T
1 paper
NM_001100619.3
p.S518Splc
c.1553+59G>A
1 paper
NM_001100619.3
p.M482_T483Splc
c.1447-105C>A
1 paper
NM_001100619.3
p.M482_T483Splc
c.1447-202T>A
1 paper
NM_001100619.3
p.M482_T483Splc
c.1447-367G>A
2 papers
NM_001100619.3
p.L519V
c.1555C>G
1 paper
NM_001100619.3
p.Q528*
c.1582C>T
1 paper
NM_001100619.3
p.E534V
c.1601A>T
1 paper
NM_001100619.3
p.F542F
c.1626C>T
2 papers
NM_001100619.3
p.L577fs
c.1729_1730fs
2 papers
NM_001100619.3
p.K578insFs
c.1732dupA
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