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

Selected Variant

1 paper

NM_017774.3

p.H28L

c.83A>T

Surrounding Variants

1 paper

NM_017774.3

p.K23Q

c.67A>C

1 paper

NM_017774.3

p.K37E

c.109A>G

5 papers

NM_017774.3

p.R39Q

c.116G>A

2 papers

NM_017774.3

p.D15E

c.45T>G

1 paper

NM_017774.3

p.D15A

c.44A>C

1 paper

NM_017774.3

p.E14A

c.41A>C

1 paper

NM_017774.3

p.D12A

c.35A>C

1 paper

NM_017774.3

p.D11A

c.32A>C

1 paper

NM_017774.3

p.D11G

c.32A>G

1 paper

NM_017774.3

p.P55L

c.164C>T

1 paper

NM_017774.3

p.I60V

c.178A>G

1 paper

NM_017774.3

p.R69*

c.205C>T