Varaico: Literature-Extracted Genetic Variants

Gene:AMDHD1
Variant:p.H89L

AMDHD1

38 papers

Pfam Domains

Amidohydro_1aa 78–423UCSCAmidohydrolase family

Gene Aliases

HGNC Name

amidohydrolase domain containing 1

HGNC Alias Symbol

MGC35366

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152435.3
p.H89L
c.266A>T
Surrounding Variants
1 paper
NM_152435.3
p.V97V
c.291T>A
1 paper
NM_152435.3
p.F100L
c.300T>A
1 paper
NM_152435.3
p.K103M
c.308A>T
1 paper
NM_152435.3
p.Q140Q
c.420A>G
1 paper
NM_152435.3
p.V153E
c.458T>A
1 paper
NM_152435.3
p.D162N
c.484G>A
1 paper
NM_152435.3
p.E164*
c.490G>T
1 paper
NM_152435.3
p.T165A
c.493A>G
1 paper
NM_152435.3
p.V172M
c.514G>A
2 papers
NM_152435.3
p.R177W
c.529C>T
1 paper
NM_152435.3
p.R177Q
c.530G>A
1 paper
NM_152435.3
p.R177P
c.530G>C
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