Varaico: Literature-Extracted Genetic Variants

Gene:AMDHD2
Variant:p.A8Fs

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
2 papers
NM_001330449.2
p.A8Fs
c.23delinsCGFs
Surrounding Variants
1 paper
NM_001330449.2
p.E4K
c.10G>A
1 paper
NM_001330449.2
p.G3S
c.7G>A
1 paper
NM_001330449.2
p.G24V
c.71G>T
1 paper
NM_001330449.2
p.L31L
c.91C>T
1 paper
NM_001330449.2
p.V33L
c.97G>C
1 paper
NM_001330449.2
p.R37H
c.110G>A
1 paper
NM_001330449.2
p.I38T
c.113T>C
1 paper
NM_001330449.2
p.R49Q
c.146G>A
1 paper
NM_001330449.2
p.I62N
c.185T>A
1 paper
NM_001330449.2
p.S81A
c.241T>G
1 paper
NM_001330449.2
p.A83G
c.248C>G
1 paper
NM_001330449.2
p.E85K
c.253G>A
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