Varaico: Literature-Extracted Genetic Variants

Gene:UTP4

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
1–12 of 37 variants
16 papers
NM_032830.3
p.R565W
c.1693C>T
2 papers
NM_032830.3
p.G101V
c.302G>T
1 paper
NM_032830.3
p.R10S
c.28C>A
1 paper
NM_032830.3
p.T36A
c.106A>G
1 paper
NM_032830.3
p.I42F
c.124A>T
1 paper
NM_032830.3
p.C67_W68insFs
c.201_202insAC
1 paper
NM_032830.3
p.G71A
c.212G>C
1 paper
NM_032830.3
p.N80S
c.239A>G
1 paper
NM_032830.3
p.A96T
c.286G>A
1 paper
NM_032830.3
p.A109S
c.325G>T
1 paper
NM_032830.3
p.P132T
c.394C>A
1 paper
NM_032830.3
p.S156T
c.466T>A
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