Varaico: Literature-Extracted Genetic Variants

Gene:UTP4
Variant:p.I301T

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
1 paper
NM_032830.3
p.I301T
c.902T>C
Surrounding Variants
1 paper
NM_032830.3
p.P282L
c.845C>T
1 paper
NM_032830.3
p.R279W
c.835C>T
1 paper
NM_032830.3
p.P267H
c.800C>A
1 paper
NM_032830.3
p.P267L
c.800C>T
1 paper
NM_032830.3
p.R312H
c.935G>A
1 paper
NM_032830.3
p.V318E
c.953T>A
1 paper
NM_032830.3
p.Y323Y
c.969C>T
1 paper
NM_032830.3
p.T331I
c.992C>T
1 paper
NM_032830.3
p.T331T
c.993C>T
1 paper
NM_032830.3
p.L382*
c.1145T>A
1 paper
NM_032830.3
p.C395R
c.1183T>C
1 paper
NM_032830.3
p.Y416C
c.1247A>G
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