Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.E364Q

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
3 papers
NM_000137.4
p.E364Q
c.1090G>C
Surrounding Variants
19 papers
NM_000137.4
p.E364*
c.1090G>T
1 paper
NM_000137.4
p.L363delFs
c.1089delG
2 papers
NM_000137.4
p.S366_W367del1
c.1097_1099delCGT
2 papers
NM_000137.4
p.S366L
c.1097C>T
5 papers
NM_000137.4
p.W367*
c.1100G>A
5 papers
NM_000137.4
p.W367*
c.1101G>A
1 paper
NM_000137.4
p.G360S
c.1078G>A
1 paper
NM_000137.4
p.G360R
c.1078G>C
1 paper
NM_000137.4
p.G369delFs
c.1106delG
1 paper
NM_000137.4
p.F359F
c.1077C>T
1 paper
NM_000137.4
p.G369fs
c.1105_1106fs
11 papers
NM_000137.4
p.G369V
c.1106G>T
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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."