Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.E223*

FAH

416 papers

Pfam Domains

FAA_hydrolase_Naa 15–118UCSCFumarylacetoacetase N-terminal
FAA_hydrolaseaa 123–413UCSCFumarylacetoacetate (FAA) hydrolase C-terminal

Gene Aliases

HGNC Name

fumarylacetoacetate hydrolase

HGNC Alias Name

fumarylacetoacetase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000137.4
p.E223*
c.667G>T
Surrounding Variants
1 paper
NM_000137.4
p.H222R
c.665A>G
4 papers
NM_000137.4
p.I225S
c.674T>G
1 paper
NM_000137.4
p.K220fs
c.658_659fs
1 paper
NM_000137.4
p.S219delFs
c.657delC
5 papers
NM_000137.4
p.G227A
c.680G>C
5 papers
NM_000137.4
p.G227V
c.680G>T
2 papers
NM_000137.4
p.I216I
c.648C>A
5 papers
NM_000137.4
p.I216M
c.648C>G
1 paper
NM_000137.4
p.I216T
c.647T>C
2 papers
NM_000137.4
p.L230V
c.688C>G
1 paper
NM_000137.4
p.M231T
c.692T>C
1 paper
NM_000137.4
p.N232D
c.694A>G
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