Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.H722P

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.H722P
c.2165A>C
Surrounding Variants
1 paper
NM_018072.6
p.T721P
c.2161A>C
1 paper
NM_018072.6
p.I727T
c.2180T>C
1 paper
NM_018072.6
p.L711L
c.2133C>T
1 paper
NM_018072.6
p.V702I
c.2104G>A
1 paper
NM_018072.6
p.V747_E748Splc
c.2241+1G>A
1 paper
NM_018072.6
p.M683_V684Splc
c.2050-16G>A
1 paper
NM_018072.6
p.L681V
c.2041T>G
1 paper
NM_018072.6
p.S678P
c.2032T>C
1 paper
NM_018072.6
p.Q662Q
c.1986G>A
1 paper
NM_018072.6
p.S650G
c.1948A>G
1 paper
NM_018072.6
p.K627delFs
c.1881delT
1 paper
NM_018072.6
p.K627fs
c.1879_1880fs
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