Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.N232K

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
6 papers
NM_000137.4
p.N232K
c.696C>G
Surrounding Variants
6 papers
NM_000137.4
p.N232K
c.696C>A
9 papers
NM_000137.4
p.N232N
c.696C>T
1 paper
NM_000137.4
p.D233Y
c.697G>T
1 paper
NM_000137.4
p.N232D
c.694A>G
22 papers
NM_000137.4
p.D233V
c.698A>T
1 paper
NM_000137.4
p.M231T
c.692T>C
14 papers
NM_000137.4
p.W234G
c.700T>G
5 papers
NM_000137.4
p.W234*
c.701G>A
2 papers
NM_000137.4
p.W234L
c.701G>T
5 papers
NM_000137.4
p.W234*
c.702G>A
2 papers
NM_000137.4
p.W234C
c.702G>C
2 papers
NM_000137.4
p.W234C
c.702G>T
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