Varaico: Literature-Extracted Genetic Variants

Gene:ASPHD1
Variant:p.A105V

ASPHD1

46 papers

Pfam Domains

Asp_Arg_Hydroxaa 247–372UCSCAspartyl/Asparaginyl beta-hydroxylase

Gene Aliases

HGNC Name

aspartate beta-hydroxylase domain containing 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181718.4
p.A105V
c.314C>T
Surrounding Variants
1 paper
NM_181718.4
p.L106I
c.316C>A
1 paper
NM_181718.4
p.G114V
c.341G>T
1 paper
NM_181718.4
p.G126G
c.378C>T
1 paper
NM_181718.4
p.G127R
c.379G>A
1 paper
NM_181718.4
p.G127R
c.379G>C
1 paper
NM_181718.4
p.P136P
c.408C>T
1 paper
NM_181718.4
p.T142M
c.425C>T
1 paper
NM_181718.4
p.P58insFs
c.173_174insA
1 paper
NM_181718.4
p.W159*
c.476G>A
1 paper
NM_181718.4
p.W159*
c.477G>A
1 paper
NM_181718.4
p.G43D
c.128G>A
1 paper
NM_181718.4
p.Q170*
c.508C>T
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