Varaico: Literature-Extracted Genetic Variants

Gene:HEATR4
Variant:p.S53*

HEATR4

53 papers

Pfam Domains

HEATaa 530–559UCSCHEAT repeat

Gene Aliases

HGNC Name

HEAT repeat containing 4

HGNC Alias Symbol

MGC48595

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001220484.1
p.S53*
c.158C>A
Surrounding Variants
1 paper
NM_001220484.1
p.S53*
c.158C>G
1 paper
NM_001220484.1
p.F51del1
c.151_153delGAA
1 paper
NM_001220484.1
p.R56H
c.167G>A
1 paper
NM_001220484.1
p.R59P
c.176G>C
1 paper
NM_001220484.1
p.S61T
c.182G>C
1 paper
NM_001220484.1
p.N30Y
c.88A>T
1 paper
NM_001220484.1
p.W25*
c.75G>A
1 paper
NM_001220484.1
p.W25*
c.74G>A
1 paper
NM_001220484.1
p.R22*
c.64C>T
1 paper
NM_001220484.1
p.Y16Y
c.48T>C
2 papers
NM_001220484.1
p.C14Y
c.41G>A
1 paper
NM_001220484.1
p.P106L
c.317C>T
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