Varaico: Literature-Extracted Genetic Variants

Gene:ASPHD2
Variant:p.H332R

ASPHD2

23 papers

Pfam Domains

Asp_Arg_Hydroxaa 192–351UCSCAspartyl/Asparaginyl beta-hydroxylase

Gene Aliases

HGNC Name

aspartate beta-hydroxylase domain containing 2

HGNC Alias Symbol

FLJ39838

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020437.5
p.H332R
c.995A>G
Surrounding Variants
1 paper
NM_020437.5
p.Q312K
c.934C>A
1 paper
NM_020437.5
p.G309E
c.926G>A
1 paper
NM_020437.5
p.K298Q
c.892A>C
1 paper
NM_020437.5
p.G296Splc
c.887-2A>T
1 paper
NM_020437.5
p.D347D
c.1041T>C
1 paper
NM_020437.5
p.A354T
c.1060G>A
1 paper
NM_020437.5
p.P367L
c.1100C>T
1 paper
NM_020437.5
p.N235S
c.704A>G
1 paper
NM_020437.5
p.S213N
c.638G>A
1 paper
NM_020437.5
p.T176M
c.527C>T
1 paper
NM_020437.5
p.P174H
c.521C>A
1 paper
NM_020437.5
p.P174S
c.520C>T
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