Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.D386H

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
4 papers
NM_000137.4
p.D386H
c.1156G>C
Surrounding Variants
1 paper
NM_000137.4
p.D386Y
c.1156G>T
1 paper
NM_000137.4
p.L385P
c.1154T>C
6 papers
NM_000137.4
p.G387R
c.1159G>A
6 papers
NM_000137.4
p.G387R
c.1159G>C
3 papers
NM_000137.4
p.D388Y
c.1162G>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.R381S
c.1143G>T
12 papers
NM_000137.4
p.R381G
c.1141A>G
2 papers
NM_000137.4
p.I392V
c.1174A>G
1 paper
NM_000137.4
p.G394Splc
c.1180+1G>A
1 paper
NM_000137.4
p.N377K
c.1131T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."