Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.I36T

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.I36T
c.107T>C
Surrounding Variants
10 papers
NM_000137.4
p.A35T
c.103G>A
1 paper
NM_000137.4
p.Q39*
c.115C>T
1 paper
NM_000137.4
p.G33S
c.97G>A
1 paper
NM_000137.4
p.I32I
c.96A>T
1 paper
NM_000137.4
p.I32insFs
c.96dupA
1 paper
NM_000137.4
p.I32_G33delFs
c.96_97delAG
1 paper
NM_000137.4
p.L41P
c.122T>C
1 paper
NM_000137.4
p.D42N
c.124G>A
1 paper
NM_000137.4
p.P30L
c.89C>T
1 paper
NM_000137.4
p.P28T
c.82C>A
8 papers
NM_000137.4
p.D27_P28Splc
c.82-1G>A
1 paper
NM_000137.4
p.I45M
c.135C>G
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