Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1

HEATR1

163 papers

Pfam Domains

U3snoRNP10aa 238–354UCSCU3 small nucleolar RNA-associated protein 10
HEAT_HEATR1aa 1371–1593UCSCHEATR1-like, HEAT repeats
BP28CTaa 1859–2011UCSCBP28CT (NUC211) domain

Gene Aliases

HGNC Name

HEAT repeat containing 1

HGNC Alias Symbols

FLJ10359; BAP28; UTP10

Papers
RefSeq ID
Protein change
DNA change
1–12 of 179 variants
8 papers
NM_018072.6
p.H348R
c.1043A>G
8 papers
NM_018072.6
p.M607V
c.1819A>G
7 papers
NM_018072.6
p.N1694S
c.5081A>G
7 papers
NM_018072.6
p.V1854A
c.5561T>C
7 papers
NM_018072.6
p.N1967D
c.5899A>G
7 papers
NM_018072.6
p.E2017G
c.6050A>G
3 papers
NM_018072.6
p.Q9H
c.27A>T
3 papers
NM_018072.6
p.Q9H
c.27A>C
3 papers
NM_018072.6
p.K292delFs
c.876delC
3 papers
NM_018072.6
p.M350V
c.1048A>G
3 papers
NM_018072.6
p.Y1433C
c.4298A>G
2 papers
NM_018072.6
p.K184E
c.550A>G
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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."