Varaico: Literature-Extracted Genetic Variants

Gene:CABLES1
Variant:p.M482_T483Splc

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.M482_T483Splc
c.1446+64C>A
Surrounding Variants
1 paper
NM_001100619.3
p.M482_T483Splc
c.1446+67G>C
1 paper
NM_001100619.3
p.I477_F478ins0
c.1431_1433dupCTT
1 paper
NM_001100619.3
p.V475F
c.1423G>T
1 paper
NM_001100619.3
p.Q466delins
c.1396_1397delinsGA
3 papers
NM_001100619.3
p.D463G
c.1388A>G
1 paper
NM_001100619.3
p.G448Splc
c.1343-43G>A
1 paper
NM_001100619.3
p.G448Splc
c.1343-61C>A
1 paper
NM_001100619.3
p.G448Splc
c.1343-164A>G
1 paper
NM_138375.3
p.G178R
c.532G>A
1 paper
NM_001100619.3
p.S439S
c.1317C>T
1 paper
NM_001100619.3
p.F409Y
c.1226T>A
1 paper
NM_001100619.3
p.K395_T396Splc
c.1186-144C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."