Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.S352G

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.S352G
c.1054A>G
Surrounding Variants
6 papers
NM_000137.4
p.S352R
c.1054A>C
6 papers
NM_000137.4
p.S352R
c.1056C>A
6 papers
NM_000137.4
p.S352R
c.1056C>G
1 paper
NM_000137.4
p.S352S
c.1056C>T
1 paper
NM_000137.4
p.I351S
c.1052T>G
1 paper
NM_000137.4
p.G353W
c.1057G>T
1 paper
NM_000137.4
p.P354A
c.1060C>G
1 paper
NM_000137.4
p.P354S
c.1060C>T
9 papers
NM_000137.4
p.P354Q
c.1061C>A
1 paper
NM_000137.4
p.P354R
c.1061C>G
1 paper
NM_000137.4
p.P354L
c.1061C>T
1 paper
NM_000137.4
p.P354P
c.1062G>A
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