Varaico: Literature-Extracted Genetic Variants

Gene:ASPHD1
Variant:p.P193S

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.P193S
c.577C>T
Surrounding Variants
1 paper
NM_181718.4
p.L192L
c.576A>G
1 paper
NM_181718.4
p.P202P
c.606G>A
1 paper
NM_181718.4
p.V181fs
c.541_542fs
1 paper
NM_181718.4
p.V181delFs
c.541delG
1 paper
NM_181718.4
p.P173_G174insA
c.517_521ins3
5 papers
NM_181718.4
p.G171_G172ins0
c.513_515dupTGG
1 paper
NM_181718.4
p.Q170*
c.508C>T
1 paper
NM_181718.4
p.R222W
c.664C>T
1 paper
NM_181718.4
p.D223N
c.667G>A
1 paper
NM_181718.4
p.W159*
c.477G>A
1 paper
NM_181718.4
p.W159*
c.476G>A
1 paper
NM_181718.4
p.T142M
c.425C>T
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