Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.N377K

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.N377K
c.1131T>A
Surrounding Variants
3 papers
NM_000137.4
p.L375L
c.1125G>T
6 papers
NM_000137.4
p.L375P
c.1124T>C
12 papers
NM_000137.4
p.R381G
c.1141A>G
1 paper
NM_000137.4
p.R381S
c.1143G>T
1 paper
NM_000137.4
p.K382N
c.1146G>C
3 papers
NM_000137.4
p.K382N
c.1146G>T
1 paper
NM_000137.4
p.L385P
c.1154T>C
4 papers
NM_000137.4
p.D386H
c.1156G>C
11 papers
NM_000137.4
p.G369V
c.1106G>T
1 paper
NM_000137.4
p.D386Y
c.1156G>T
1 paper
NM_000137.4
p.G369fs
c.1105_1106fs
1 paper
NM_000137.4
p.G369delFs
c.1106delG
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