Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.P354_E355Splc

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
75 papers
NM_000137.4
p.P354_E355Splc
c.1062+5G>A
Surrounding Variants
1 paper
NM_000137.4
p.P354_E355Splc
c.1062+2T>G
1 paper
NM_000137.4
p.P354_E355Splc
c.1062+1G>A
1 paper
NM_000137.4
p.P354P
c.1062G>A
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.P354A
c.1060C>G
1 paper
NM_000137.4
p.P354S
c.1060C>T
1 paper
NM_000137.4
p.G353W
c.1057G>T
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
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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."