Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.F205S

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.F205S
c.614T>C
Surrounding Variants
2 papers
NM_000137.4
p.F205fs
c.613_614fs
1 paper
NM_000137.4
p.F205fs
c.613_614fs
1 paper
NM_000137.4
p.V206fs
c.616_617fs
1 paper
NM_000137.4
p.V206V
c.618A>G
1 paper
NM_000137.4
p.A203D
c.608C>A
2 papers
NM_000137.4
p.F205insFs
c.615dupT
1 paper
NM_000137.4
p.F205insFs
c.614_615dupTT
1 paper
NM_000137.4
p.A203V
c.608C>T
6 papers
NM_000137.4
p.F205delFs
c.615delT
10 papers
NM_000137.4
p.G207D
c.620G>A
1 paper
NM_000137.4
p.G207V
c.620G>T
1 paper
NM_000137.4
p.A203T
c.607G>A
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