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.V111insFs

c.333dupA

Surrounding Variants

1 paper

NM_017774.3

p.V111fs

c.331_332fs

1 paper

NM_017774.3

p.T110_V111delFs

c.330_331delTG

1 paper

NM_017774.3

p.C109F

c.326G>T

1 paper

NM_017774.3

p.L105_L106insFs

c.315_316insC

1 paper

NM_017774.3

p.L105F

c.313C>T

1 paper

NM_017774.3

p.D100E

c.300T>A

1 paper

NM_017774.3

p.S99S

c.297C>T

1 paper

NM_017774.3

p.K124Splc

c.371+200C>A

1 paper

NM_017774.3

p.E96Splc

c.287-270A>T

1 paper

NM_017774.3

p.K124Splc

c.371+1213G>A

1 paper

NM_017774.3

p.K124Splc

c.371+3109C>G

1 paper

NM_017774.3

p.K124Splc

c.371+3157A>G