Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.K253E

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.K253E
c.757A>G
Surrounding Variants
1 paper
NM_000137.4
p.S254delFs
c.760_761delAG
1 paper
NM_000137.4
p.S254fs
c.760_761fs
1 paper
NM_000137.4
p.G256W
c.766G>T
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
4 papers
NM_000137.4
p.G248R
c.742G>A
4 papers
NM_000137.4
p.G248R
c.742G>C
7 papers
NM_000137.4
p.G248delFs
c.742delG
5 papers
NM_000137.4
p.V259L
c.775G>C
6 papers
NM_000137.4
p.V259D
c.776T>A
1 paper
NM_000137.4
p.P246H
c.737C>A
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