Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.D329G

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
1 paper
NM_018072.6
p.D329G
c.986A>G
Surrounding Variants
1 paper
NM_018072.6
p.I333M
c.999A>G
1 paper
NM_018072.6
p.P345S
c.1033C>T
1 paper
NM_018072.6
p.L347L
c.1039C>T
8 papers
NM_018072.6
p.H348R
c.1043A>G
3 papers
NM_018072.6
p.M350V
c.1048A>G
1 paper
NM_018072.6
p.K298N
c.894G>T
1 paper
NM_018072.6
p.K298N
c.894G>C
1 paper
NM_018072.6
p.P294P
c.882C>A
1 paper
NM_018072.6
p.I293fs
c.877_878fs
1 paper
NM_018072.6
p.I293fs
c.877_878fs
3 papers
NM_018072.6
p.K292delFs
c.876delC
1 paper
NM_018072.6
p.K292fs
c.874_875fs
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