Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.Q64H

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
38 papers
NM_000137.4
p.Q64H
c.192G>T
Surrounding Variants
33 papers
NM_000137.4
p.Q64H
c.192G>C
5 papers
NM_000137.4
p.Q64_P65Splc
c.192+1G>T
1 paper
NM_000137.4
p.Q64fs
c.190_191fs
5 papers
NM_000137.4
p.Q64delFs
c.191delA
1 paper
NM_000137.4
p.Q64fs
c.190_191fs
1 paper
NM_000137.4
p.N63fs
c.187_188fs
11 papers
NM_000137.4
p.F62C
c.185T>G
6 papers
NM_000137.4
p.V61F
c.181G>T
2 papers
NM_000137.4
p.Q59H
c.177G>C
1 paper
NM_000137.4
p.Q59H
c.177G>T
1 paper
NM_000137.4
p.K57E
c.169A>G
1 paper
NM_000137.4
p.L49P
c.146T>C
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