Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.M1248I

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.M1248I
c.3744G>C
Surrounding Variants
1 paper
NM_018072.6
p.M1248I
c.3744G>T
1 paper
NM_018072.6
p.M1248I
c.3744G>A
1 paper
NM_018072.6
p.Q1264H
c.3792A>T
1 paper
NM_018072.6
p.Q1264H
c.3792A>C
1 paper
NM_018072.6
p.P1268L
c.3803C>T
1 paper
NM_018072.6
p.P1274L
c.3821C>T
1 paper
NM_018072.6
p.D1276Y
c.3826G>T
1 paper
NM_018072.6
p.D1276Y
c.3826G>T
1 paper
NM_018072.6
p.F1283V
c.3847T>G
1 paper
NM_018072.6
p.P1316_D1317Splc
c.3948+6C>T
1 paper
NM_018072.6
p.L1234L
c.3702A>T
1 paper
NM_018072.6
p.Q1215*
c.3643C>T
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