Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.P1355P

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
2 papers
NM_018072.6
p.P1355P
c.4065C>T
Surrounding Variants
1 paper
NM_018072.6
p.P1355S
c.4063C>T
1 paper
NM_018072.6
p.A1332G
c.3995C>G
1 paper
NM_018072.6
p.I1326M
c.3978T>G
1 paper
NM_018072.6
p.P1316_D1317Splc
c.3949-36G>A
1 paper
NM_018072.6
p.D1364V
c.4091A>T
1 paper
NM_018072.6
p.V1390I
c.4168G>A
1 paper
NM_018072.6
p.L1406M
c.4216C>A
1 paper
NM_018072.6
p.P1316_D1317Splc
c.3948+6C>T
1 paper
NM_018072.6
p.L1429P
c.4286T>C
1 paper
NM_018072.6
p.A1430V
c.4289C>T
3 papers
NM_018072.6
p.Y1433C
c.4298A>G
1 paper
NM_018072.6
p.F1283V
c.3847T>G
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