Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.L49P

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.L49P
c.146T>C
Surrounding Variants
1 paper
NM_000137.4
p.I45M
c.135C>G
1 paper
NM_000137.4
p.D42N
c.124G>A
1 paper
NM_000137.4
p.K57E
c.169A>G
1 paper
NM_000137.4
p.L41P
c.122T>C
1 paper
NM_000137.4
p.Q39*
c.115C>T
2 papers
NM_000137.4
p.Q59H
c.177G>C
1 paper
NM_000137.4
p.Q59H
c.177G>T
6 papers
NM_000137.4
p.V61F
c.181G>T
1 paper
NM_000137.4
p.I36T
c.107T>C
11 papers
NM_000137.4
p.F62C
c.185T>G
1 paper
NM_000137.4
p.N63fs
c.187_188fs
10 papers
NM_000137.4
p.A35T
c.103G>A
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