Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.V259D

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
6 papers
NM_000137.4
p.V259D
c.776T>A
Surrounding Variants
5 papers
NM_000137.4
p.V259L
c.775G>C
42 papers
NM_000137.4
p.P261L
c.782C>T
33 papers
NM_000137.4
p.W262*
c.785G>A
1 paper
NM_000137.4
p.W262S
c.785G>C
33 papers
NM_000137.4
p.W262*
c.786G>A
1 paper
NM_000137.4
p.G256W
c.766G>T
5 papers
NM_000137.4
p.V263M
c.787G>A
1 paper
NM_000137.4
p.V263fs
c.787_788fs
1 paper
NM_000137.4
p.V263delFs
c.788delT
1 paper
NM_000137.4
p.S254fs
c.760_761fs
1 paper
NM_000137.4
p.K253E
c.757A>G
1 paper
NM_000137.4
p.S254delFs
c.760_761delAG
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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."