Varaico: Literature-Extracted Genetic Variants

Gene:HEATR1
Variant:p.Y126C

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.Y126C
c.377A>G
Surrounding Variants
1 paper
NM_018072.6
p.D129V
c.386A>T
1 paper
NM_018072.6
p.S130I
c.389G>T
1 paper
NM_018072.6
p.R120R
c.360G>A
1 paper
NM_018072.6
p.I132V
c.394A>G
1 paper
NM_018072.6
p.R146*
c.436C>T
1 paper
NM_018072.6
p.R146Q
c.437G>A
1 paper
NM_018072.6
p.V166I
c.496G>A
2 papers
NM_018072.6
p.K184E
c.550A>G
1 paper
NM_018072.6
p.S199F
c.596C>T
1 paper
NM_018072.6
p.K201N
c.603G>T
1 paper
NM_018072.6
p.K201N
c.603G>C
1 paper
NM_018072.6
p.K88delFs
c.264delT
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