Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.F205delFs

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.F205delFs
c.615delT
Surrounding Variants
1 paper
NM_000137.4
p.A203D
c.608C>A
2 papers
NM_000137.4
p.F205insFs
c.615dupT
1 paper
NM_000137.4
p.F205insFs
c.614_615dupTT
1 paper
NM_000137.4
p.A203V
c.608C>T
1 paper
NM_000137.4
p.A203T
c.607G>A
3 papers
NM_000137.4
p.M202_A203Splc
c.607-1G>A
1 paper
NM_000137.4
p.A203delFs
c.607delG
2 papers
NM_000137.4
p.F205fs
c.613_614fs
1 paper
NM_000137.4
p.F205fs
c.613_614fs
1 paper
NM_000137.4
p.F205S
c.614T>C
5 papers
NM_000137.4
p.M202_A203Splc
c.607-6T>G
1 paper
NM_000137.4
p.V206fs
c.616_617fs
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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."