Varaico: Literature-Extracted Genetic Variants

CDK5RAP1

60 papers

RefSeq Summary

This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylth...

Pfam Domains

UPF0004aa 101–204UCSCUncharacterized protein family UPF0004

Radical_SAMaa 302–461UCSCRadical SAM superfamily

TRAMaa 515–589UCSCTRAM domain

Gene Aliases

HGNC Name

CDK5RAP1 mitochondrial tRNA methylthiotransferase

HGNC Previous Symbol

C20orf34

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016408.4

p.C41S

c.121T>A

Surrounding Variants

1 paper

NM_016408.4

p.C41S

c.122G>C

1 paper

NM_016408.4

p.T39N

c.116C>A

1 paper

NM_016408.4

p.P63L

c.188C>T

1 paper

NM_016408.4

p.G17G

c.51A>T

1 paper

NM_016408.4

p.L69I

c.205T>A

1 paper

NM_016408.4

p.A72S

c.214G>T

1 paper

NM_016408.4

p.M1fs

c.1_2fs

1 paper

NM_016408.4

p.S81*

c.242C>G

1 paper

NM_016408.4

p.M91T

c.272T>C

1 paper

NM_016408.4

p.L96V

c.286C>G

1 paper

NM_016408.4

p.E105_T106insFs

c.315_316insC

1 paper

NM_016408.4

p.G108fs

c.322_323fs