Varaico: Literature-Extracted Genetic Variants

Gene:UTP4
Variant:p.R565W

UTP4

52 papers

RefSeq Summary

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that re...

Pfam Domains

WD40aa 95–129UCSCWD domain, G-beta repeat
WD40aa 136–168UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

UTP4 small subunit processome component

HGNC Previous Symbol

CIRH1A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_032830.3
p.R565W
c.1693C>T
Surrounding Variants
1 paper
NM_032830.3
p.R634W
c.1900C>T
1 paper
NM_032830.3
p.R636C
c.1906C>T
1 paper
NM_032830.3
p.R636H
c.1907G>A
1 paper
NM_032830.3
p.I534V
c.1600A>G
1 paper
NM_032830.3
p.K514*
c.1540A>T
1 paper
NM_032830.3
p.G482Splc
c.1444+22A>C
1 paper
NM_032830.3
p.G459E
c.1376G>A
1 paper
NM_032830.3
p.R429_V430Splc
c.1287+6T>C
1 paper
NM_032830.3
p.Y416C
c.1247A>G
1 paper
NM_032830.3
p.C395R
c.1183T>C
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