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

2 papers

NM_017774.3

p.A306T

c.916G>A

Surrounding Variants

1 paper

NM_017774.3

p.Y315_A316insC

c.943_947ins3

1 paper

NM_017774.3

p.A316S

c.946G>T

2 papers

NM_017774.3

p.V329I

c.985G>A

1 paper

NM_017774.3

p.L330_M331del2

c.988_992del6

1 paper

NM_017774.3

p.L330_M331delFs

c.989_993del5

1 paper

NM_017774.3

p.R335S

c.1005A>C

1 paper

NM_017774.3

p.R335S

c.1005A>T

1 paper

NM_017774.3

p.A340V

c.1019C>T