Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.N276insFs

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
2 papers
NM_000137.4
p.N276insFs
c.827_828insG
Surrounding Variants
4 papers
NM_000137.4
p.N276S
c.827A>G
1 paper
NM_000137.4
p.P277S
c.829C>T
1 paper
NM_000137.4
p.P277P
c.831G>T
6 papers
NM_000137.4
p.Q279delFs
c.835delC
1 paper
NM_000137.4
p.Q279fs
c.835_836fs
1 paper
NM_000137.4
p.Q279fs
c.835_836fs
1 paper
NM_000137.4
p.A273A
c.819T>C
22 papers
NM_000137.4
p.Q279R
c.836A>G
1 paper
NM_000137.4
p.Q279L
c.836A>T
6 papers
NM_000137.4
p.Q279_D280Splc
c.837+2T>C
2 papers
NM_000137.4
p.A268D
c.803C>A
1 paper
NM_000137.4
p.M266I
c.798G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."