Varaico: Literature-Extracted Genetic Variants

Gene:CDKAL1
Variant:p.K516_D517Splc

CDKAL1

128 papers

RefSeq Summary

The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in...

Pfam Domains

UPF0004aa 65–153UCSCUncharacterized protein family UPF0004
Radical_SAMaa 208–381UCSCRadical SAM superfamily
TRAMaa 431–492UCSCTRAM domain

Gene Aliases

HGNC Name

CDKAL1 threonylcarbamoyladenosine tRNA methylthiotransferase

HGNC Alias Symbol

FLJ20342

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017774.3
p.K516_D517Splc
c.1548+10A>C
Surrounding Variants
3 papers
NM_017774.3
p.S512S
c.1536G>A
1 paper
NM_017774.3
p.E445*
c.1333G>T
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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."