Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.E2017G

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
7 papers
NM_018072.6
p.E2017G
c.6050A>G
Surrounding Variants
1 paper
NM_018072.6
p.E2014Q
c.6040G>C
1 paper
NM_018072.6
p.K2013E
c.6037A>G
1 paper
NM_018072.6
p.D1975V
c.5924A>T
7 papers
NM_018072.6
p.N1967D
c.5899A>G
1 paper
NM_018072.6
p.T1965A
c.5893A>G
1 paper
NM_018072.6
p.H1957delFs
c.5869delG
1 paper
NM_018072.6
p.A1940T
c.5818G>A
1 paper
NM_018072.6
p.R2040W
c.6118C>T
1 paper
NM_018072.6
p.A2057A
c.6171G>A
1 paper
NM_018072.6
p.T1892M
c.5675C>T
1 paper
NM_018072.6
p.G1890V
c.5669G>T
1 paper
NM_018072.6
p.K1857R
c.5570A>G
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