Varaico: Literature-Extracted Genetic Variants

Gene:AMDHD2
Variant:p.I183F

AMDHD2

38 papers

Pfam Domains

Amidohydro_1aa 62–401UCSCAmidohydrolase family

Gene Aliases

HGNC Name

amidohydrolase domain containing 2

HGNC Alias Symbol

CGI-14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001330449.2
p.I183F
c.547A>T
Surrounding Variants
1 paper
NM_001330449.2
p.R182C
c.544C>T
1 paper
NM_001330449.2
p.T185A
c.553A>G
1 paper
NM_001330449.2
p.R198Q
c.593G>A
1 paper
NM_001330449.2
p.S208T
c.622T>A
1 paper
NM_001330449.2
p.G210Splc
c.628+3G>A
1 paper
NM_001330449.2
p.A154P
c.460G>C
1 paper
NM_001330449.2
p.F146L
c.438C>A
1 paper
NM_001330449.2
p.F146L
c.438C>G
1 paper
NM_001330449.2
p.F146L
c.436T>C
1 paper
NM_001330449.2
p.E220fs
c.658_659fs
1 paper
NM_001330449.2
p.E220ins2
c.659_660ins6
1 paper
NM_001330449.2
p.E220insFs
c.659_660ins11
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