Varaico: Literature-Extracted Genetic Variants

Gene:UTP6
Variant:p.Q256*

UTP6

37 papers

Pfam Domains

U3_assoc_6aa 9–91UCSCU3 small nucleolar RNA-associated protein 6
UTP6_Caa 307–577UCSCU3 small nucleolar RNA-associated protein 6 C-terminal

Gene Aliases

HGNC Name

UTP6 small subunit processome component

HGNC Previous Symbol

C17orf40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018428.3
p.Q256*
c.766C>T
Surrounding Variants
1 paper
NM_018428.3
p.L248fs
c.742_743fs
1 paper
NM_018428.3
p.I232fs
c.694_695fs
1 paper
NM_018428.3
p.E208D
c.624G>T
1 paper
NM_018428.3
p.E208D
c.624G>C
1 paper
NM_018428.3
p.V207_E208Splc
c.621+40T>C
1 paper
NM_018428.3
p.P292L
c.875C>T
1 paper
NM_018428.3
p.E315D
c.945G>T
1 paper
NM_018428.3
p.E315D
c.945G>C
1 paper
NM_018428.3
p.R170C
c.508C>T
1 paper
NM_018428.3
p.R167C
c.499C>T
1 paper
NM_018428.3
p.S158L
c.473C>T
1 paper
NM_018428.3
p.C333fs
c.997_998fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."