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+5502A>G
Surrounding Variants
1 paper
NM_017774.3
p.K124Splc
c.371+5289T>C
1 paper
NM_017774.3
p.K124Splc
c.371+4692G>C
1 paper
NM_017774.3
p.K124Splc
c.371+4192A>G
1 paper
NM_017774.3
p.K124Splc
c.371+3942G>C
1 paper
NM_017774.3
p.K124Splc
c.371+7192C>G
1 paper
NM_017774.3
p.K124Splc
c.371+3157A>G
1 paper
NM_017774.3
p.K124Splc
c.371+3109C>G
1 paper
NM_017774.3
p.K124Splc
c.371+7956A>G
1 paper
NM_017774.3
p.K124Splc
c.371+8257A>G
1 paper
NM_017774.3
p.K124Splc
c.371+8404A>C
1 paper
NM_017774.3
p.K124Splc
c.371+1213G>A
1 paper
NM_017774.3
p.K124Splc
c.371+9851G>A
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