Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.N336K

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.N336K
c.1008C>G
Surrounding Variants
1 paper
NM_000137.4
p.N336K
c.1008C>A
37 papers
NM_000137.4
p.G337S
c.1009G>A
2 papers
NM_000137.4
p.G337D
c.1010G>A
1 paper
NM_000137.4
p.G337A
c.1010G>C
1 paper
NM_000137.4
p.C338R
c.1012T>C
1 paper
NM_000137.4
p.C338delFs
c.1014delC
5 papers
NM_000137.4
p.S334F
c.1001C>T
2 papers
NM_000137.4
p.H333P
c.998A>C
1 paper
NM_000137.4
p.R341G
c.1021C>G
27 papers
NM_000137.4
p.R341W
c.1021C>T
5 papers
NM_000137.4
p.R341P
c.1022G>C
19 papers
NM_000137.4
p.P342L
c.1025C>T
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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."