Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.N1694S

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.N1694S
c.5081A>G
Surrounding Variants
1 paper
NM_018072.6
p.T1695P
c.5083A>C
1 paper
NM_018072.6
p.F1681V
c.5041T>G
1 paper
NM_018072.6
p.C1678Y
c.5033G>A
1 paper
NM_018072.6
p.A1714T
c.5140G>A
1 paper
NM_018072.6
p.N1666D
c.4996A>G
1 paper
NM_018072.6
p.I1665V
c.4993A>G
1 paper
NM_018072.6
p.E1661Q
c.4981G>C
1 paper
NM_018072.6
p.E1660G
c.4979A>G
1 paper
NM_018072.6
p.R1654H
c.4961G>A
1 paper
NM_018072.6
p.S1735Splc
c.5204+6C>G
1 paper
NM_018072.6
p.L1642P
c.4925T>C
1 paper
NM_018072.6
p.S1632F
c.4895C>T
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