Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.Q9H

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
Selected Variant
3 papers
NM_018072.6
p.Q9H
c.27A>T
Surrounding Variants
3 papers
NM_018072.6
p.Q9H
c.27A>C
1 paper
NM_018072.6
p.L8insFs
c.23dupT
1 paper
NM_018072.6
p.E25insFs
c.73_74insT
1 paper
NM_018072.6
p.V26delins
c.78delinsTCCCTTC
1 paper
NM_018072.6
p.L29insFs
c.85dupT
1 paper
NM_018072.6
p.T38A
c.112A>G
1 paper
NM_018072.6
p.D42N
c.124G>A
1 paper
NM_018072.6
p.A44V
c.131C>T
1 paper
NM_018072.6
p.F45insFs
c.134_135ins43
1 paper
NM_018072.6
p.E63Q
c.187G>C
1 paper
NM_018072.6
p.K88fs
c.262_263fs
1 paper
NM_018072.6
p.K88delFs
c.264delT
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