Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.Q328R

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.Q328R
c.983A>G
Surrounding Variants
7 papers
NM_000137.4
p.Q328*
c.982C>T
11 papers
NM_000137.4
p.T325M
c.974C>T
4 papers
NM_000137.4
p.T325_M326Fs
c.974_976delinsGCFs
1 paper
NM_000137.4
p.T325fs
c.973_974fs
1 paper
NM_000137.4
p.T325fs
c.973_974fs
2 papers
NM_000137.4
p.H333P
c.998A>C
5 papers
NM_000137.4
p.S334F
c.1001C>T
2 papers
NM_000137.4
p.Y321*
c.963C>A
2 papers
NM_000137.4
p.Y321*
c.963C>G
1 paper
NM_000137.4
p.K320_Y321Splc
c.961-2A>G
1 paper
NM_000137.4
p.N336K
c.1008C>A
1 paper
NM_000137.4
p.N336K
c.1008C>G
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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."