Varaico: Literature-Extracted Genetic Variants

Gene:UTP6
Variant:p.E415K

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
1 paper
NM_018428.3
p.E415K
c.1243G>A
Surrounding Variants
1 paper
NM_018428.3
p.A428G
c.1283C>G
1 paper
NM_018428.3
p.V391V
c.1173G>T
1 paper
NM_018428.3
p.R486*
c.1456C>T
1 paper
NM_018428.3
p.V496A
c.1487T>C
1 paper
NM_018428.3
p.S499Splc
c.1496+1G>T
1 paper
NM_018428.3
p.K349N
c.1047G>T
1 paper
NM_018428.3
p.K349N
c.1047G>C
1 paper
NM_018428.3
p.C333fs
c.997_998fs
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.P292L
c.875C>T
2 papers
NM_018428.3
p.Q256*
c.766C>T
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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."