Varaico: Literature-Extracted Genetic Variants

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

1–12 of 174 variants

10 papers

NM_017774.3

p.P409L

c.1226C>T

5 papers

NM_017774.3

p.R39Q

c.116G>A

3 papers

NM_017774.3

p.K124Splc

c.371+11642G>C

3 papers

NM_017774.3

p.S512S

c.1536G>A

2 papers

NM_017774.3

p.D15E

c.45T>G

2 papers

NM_017774.3

p.K124Splc

c.371+11426A>C

2 papers

NM_017774.3

p.K124Splc

c.371+30101A>G

2 papers

NM_017774.3

p.A306T

c.916G>A

2 papers

NM_017774.3

p.V329I

c.985G>A

2 papers

NM_017774.3

p.P409P

c.1227A>G

1 paper

NM_017774.3

p.D11A

c.32A>C

1 paper

NM_017774.3

p.D11G

c.32A>G