Varaico: Literature-Extracted Genetic Variants

Gene:UTP14A

UTP14A

38 papers

RefSeq Summary

This gene encodes a member of the uridine triphosphate 14 family. As an essential component of a large ribonucleoprotein complex bound to the U3 small nucleolar RNA, the encoded protein is involved in...

Pfam Domains

Utp14aa 44–735UCSCUtp14 protein

Gene Aliases

HGNC Name

UTP14A small subunit processome component

HGNC Previous Symbol

SDCCAG16

Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
1 paper
NM_006649.4
p.N4T
c.11A>C
1 paper
NM_006649.4
p.Y26C
c.77A>G
1 paper
NM_006649.4
p.D33delFs
c.97delG
1 paper
NM_006649.4
p.E63K
c.187G>A
1 paper
NM_006649.4
p.G82A
c.245G>C
1 paper
NM_006649.4
p.S97del1
c.289_290delTCA
1 paper
NM_006649.4
p.L107L
c.319C>T
1 paper
NM_006649.4
p.K143R
c.428A>G
1 paper
NM_006649.4
p.R152Q
c.455G>A
1 paper
NM_006649.4
p.P160S
c.478C>T
1 paper
NM_006649.4
p.P166Q
c.497C>A
1 paper
NM_006649.4
p.P206H
c.617C>A
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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."