Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.M198L

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.M198L
c.592A>C
Surrounding Variants
1 paper
NM_000137.4
p.M198_E199delFs
c.593_596del4
1 paper
NM_000137.4
p.D197A
c.590A>C
1 paper
NM_000137.4
p.E199G
c.596A>G
3 papers
NM_000137.4
p.E201G
c.602A>G
3 papers
NM_000137.4
p.K194E
c.580A>G
6 papers
NM_000137.4
p.C193*
c.579C>A
1 paper
NM_000137.4
p.M202I
c.606G>A
1 paper
NM_000137.4
p.C193S
c.578G>C
1 paper
NM_000137.4
p.M202I
c.606G>C
1 paper
NM_000137.4
p.M202I
c.606G>T
1 paper
NM_000137.4
p.C193S
c.577T>A
11 papers
NM_000137.4
p.C193R
c.577T>C
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