Varaico: Literature-Extracted Genetic Variants

Gene:FAH

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
1–12 of 418 variants
75 papers
NM_000137.4
p.P354_E355Splc
c.1062+5G>A
49 papers
NM_000137.4
p.S185Splc
c.554-1G>T
42 papers
NM_000137.4
p.P261L
c.782C>T
38 papers
NM_000137.4
p.Q64H
c.192G>T
37 papers
NM_000137.4
p.G337S
c.1009G>A
33 papers
NM_000137.4
p.Q64H
c.192G>C
33 papers
NM_000137.4
p.W262*
c.785G>A
33 papers
NM_000137.4
p.W262*
c.786G>A
27 papers
NM_000137.4
p.R341W
c.1021C>T
24 papers
NM_000137.4
p.R237*
c.709C>T
23 papers
NM_000137.4
p.E357*
c.1069G>T
22 papers
NM_000137.4
p.D233V
c.698A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."