Varaico: Literature-Extracted Genetic Variants

Gene:CDKAL1
Variant:p.K124Splc

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.K124Splc
c.371+11535T>A
Surrounding Variants
3 papers
NM_017774.3
p.K124Splc
c.371+11642G>C
2 papers
NM_017774.3
p.K124Splc
c.371+11426A>C
1 paper
NM_017774.3
p.K124Splc
c.371+11921G>T
1 paper
NM_017774.3
p.K124Splc
c.371+11123T>C
1 paper
NM_017774.3
p.K124Splc
c.371+11085A>T
1 paper
NM_017774.3
p.K124Splc
c.371+11082G>A
1 paper
NM_017774.3
p.K124Splc
c.371+12234T>C
1 paper
NM_017774.3
p.K124Splc
c.371+10757T>C
1 paper
NM_017774.3
p.K124Splc
c.371+12505A>G
1 paper
NM_017774.3
p.K124Splc
c.371+12609T>C
1 paper
NM_017774.3
p.K124Splc
c.371+10198T>C
1 paper
NM_017774.3
p.K124Splc
c.371+12984G>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."