Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.S185Splc

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
3 papers
NM_000137.4
p.S185Splc
c.554-1G>C
Surrounding Variants
2 papers
NM_000137.4
p.S185Splc
c.554-1G>A
49 papers
NM_000137.4
p.S185Splc
c.554-1G>T
1 paper
NM_000137.4
p.S185_P187Fs
c.554_559delinsTGTGFs
4 papers
NM_000137.4
p.V189I
c.565G>A
1 paper
NM_000137.4
p.A192A
c.576C>T
1 paper
NM_000137.4
p.C193S
c.577T>A
11 papers
NM_000137.4
p.C193R
c.577T>C
1 paper
NM_000137.4
p.C193S
c.578G>C
6 papers
NM_000137.4
p.C193*
c.579C>A
3 papers
NM_000137.4
p.K194E
c.580A>G
1 paper
NM_000137.4
p.D197A
c.590A>C
1 paper
NM_000137.4
p.M198_E199delFs
c.593_596del4
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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."