Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.G248R

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
4 papers
NM_000137.4
p.G248R
c.742G>C
Surrounding Variants
4 papers
NM_000137.4
p.G248R
c.742G>A
7 papers
NM_000137.4
p.G248delFs
c.742delG
11 papers
NM_000137.4
p.P249T
c.745C>A
2 papers
NM_000137.4
p.P249fs
c.745_746fs
3 papers
NM_000137.4
p.P249fs
c.745_746fs
1 paper
NM_000137.4
p.P246H
c.737C>A
1 paper
NM_000137.4
p.V245A
c.734T>C
1 paper
NM_000137.4
p.V245I
c.733G>A
2 papers
NM_000137.4
p.E243_Y244insFs
c.729_730insTT
1 paper
NM_000137.4
p.K253E
c.757A>G
1 paper
NM_000137.4
p.S254delFs
c.760_761delAG
4 papers
NM_000137.4
p.W242*
c.726G>A
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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."