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.G368A

c.1103G>C

Surrounding Variants

1 paper

NM_017774.3

p.D371H

c.1111G>C

1 paper

NM_017774.3

p.D361N

c.1081G>A

1 paper

NM_017774.3

p.V353L

c.1057G>C

1 paper

NM_017774.3

p.Y384S

c.1151A>C

10 papers

NM_017774.3

p.P409L

c.1226C>T

1 paper

NM_017774.3

p.P409delins

c.1226_1227delinsTG

2 papers

NM_017774.3

p.P409P

c.1227A>G