Varaico: Literature-Extracted Genetic Variants

Gene:ASPHD1

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
1–12 of 38 variants
5 papers
NM_181718.4
p.G171_G172ins0
c.513_515dupTGG
1 paper
NM_181718.4
p.M1insFs
c.1dupA
1 paper
NM_181718.4
p.M1insFs
c.2dupT
1 paper
NM_181718.4
p.G13R
c.37G>A
1 paper
NM_181718.4
p.G13R
c.37G>C
1 paper
NM_181718.4
p.M39R
c.116T>G
1 paper
NM_181718.4
p.G43D
c.128G>A
1 paper
NM_181718.4
p.P58insFs
c.173_174insA
1 paper
NM_181718.4
p.A105V
c.314C>T
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
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