Varaico: Literature-Extracted Genetic Variants

Gene:HEATR5B
Variant:p.F224C

HEATR5B

133 papers

Pfam Domains

Laa1_Sip1_HTR5aa 1287–1493UCSCLaa1/Sip1/HEATR5 HEAT repeat region
HEAT_HEATR5Aaa 1558–1771UCSCHEATR5A-like, HEAT repeats

Gene Aliases

HGNC Name

HEAT repeat containing 5B

HGNC Alias Symbols

KIAA1414; DKFZp686P15184; p200; p200a

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019024.3
p.F224C
c.671T>G
Surrounding Variants
1 paper
NM_019024.3
p.R235*
c.703C>T
1 paper
NM_019024.3
p.R264*
c.790C>T
2 papers
NM_019024.3
p.R301C
c.901C>T
4 papers
NM_019024.3
p.V313F
c.937G>T
1 paper
NM_019024.3
p.C195Y
c.584G>A
1 paper
NM_019024.3
p.S190L
c.569C>T
1 paper
NM_019024.3
p.R176H
c.527G>A
2 papers
NM_019024.3
p.R176C
c.526C>T
1 paper
NM_019024.3
p.L160P
c.479T>C
1 paper
NM_019024.3
p.M389V
c.1165A>G
1 paper
NM_019024.3
p.G120R
c.358G>C
1 paper
NM_019024.3
p.G120R
c.358G>A
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