Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.L212delFs

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.L212delFs
c.634delT
Surrounding Variants
1 paper
NM_000137.4
p.L212fs
c.634_635fs
1 paper
NM_000137.4
p.P208S
c.622C>T
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.I216T
c.647T>C
1 paper
NM_000137.4
p.V206V
c.618A>G
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.V206fs
c.616_617fs
1 paper
NM_000137.4
p.F205S
c.614T>C
2 papers
NM_000137.4
p.F205fs
c.613_614fs
1 paper
NM_000137.4
p.F205fs
c.613_614fs
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