Varaico: Literature-Extracted Genetic Variants

DKC1

457 papers

RefSeq Summary

This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stabilit...

Pfam Domains

DKCLDaa 49–106UCSCDKCLD (NUC011) domain

TruB_Naa 110–226UCSCTruB family pseudouridylate synthase (N terminal domain)

TruB_C_2aa 227–294UCSCtRNA pseudouridylate synthase B C-terminal domain

PUAaa 297–370UCSCPUA domain

Gene Aliases

HGNC Name

dyskerin pseudouridine synthase 1

HGNC Alias Symbols

XAP101; dyskerin; NAP57; NOLA4; Cbf5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001363.5

p.K46R

c.137A>G

Surrounding Variants

1 paper

NM_001363.5

p.A45S

c.133G>T

1 paper

NM_001363.5

p.D48A

c.143A>C

1 paper

NM_001363.5

p.V44L

c.130G>C

8 papers

NM_001363.5

p.T49S

c.145A>T

1 paper

NM_001363.5

p.K43_L47Fs

c.129_140delinsGTFs

2 papers

NM_001363.5

p.K43R

c.128A>G

47 papers

NM_001363.5

p.T49M

c.146C>T

18 papers

NM_001363.5

p.K43E

c.127A>G

1 paper

NM_001363.5

p.S50Y

c.149C>A

1 paper

NM_001363.5

p.Q51*

c.151C>T

1 paper

NM_001363.5

p.Q51insFs

c.152_153insC

1 paper

NM_001363.5

p.E41G

c.122A>G