Varaico: Literature-Extracted Genetic Variants

Gene:FAHD1

FAHD1

16 papers

Pfam Domains

FAA_hydrolaseaa 16–217UCSCFumarylacetoacetate (FAA) hydrolase C-terminal
FAA_hydrolaseaa 16–217UCSCFumarylacetoacetate (FAA) hydrolase C-terminal

Gene Aliases

HGNC Name

fumarylacetoacetate hydrolase domain containing 1

HGNC Previous Symbol

C16orf36

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_031208.4
p.A2S
c.4G>T
1 paper
NM_031208.4
p.V18V
c.54C>A
1 paper
NM_031208.4
p.E30A
c.89A>C
1 paper
NM_031208.4
p.A102S
c.304G>T
1 paper
NM_031208.4
p.K111N
c.333G>C
1 paper
NM_031208.4
p.L118M
c.352C>A
1 paper
NM_031208.4
p.E156G
c.467A>G
1 paper
NM_031208.4
p.I166V
c.496A>G
1 paper
NM_031208.4
p.A204T
c.610G>A
1 paper
NM_031208.4
p.E220E
c.660A>G
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