Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.L345_L346del1

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
7 papers
NM_000137.4
p.L345_L346del1
c.1035_1037delCCT
Surrounding Variants
1 paper
NM_000137.4
p.D344G
c.1031A>G
3 papers
NM_000137.4
p.L346del1
c.1036_1037delCTG
7 papers
NM_000137.4
p.G343R
c.1027G>A
7 papers
NM_000137.4
p.G343R
c.1027G>C
10 papers
NM_000137.4
p.G343W
c.1027G>T
1 paper
NM_000137.4
p.G343_L345del3
c.1027_1034del9
19 papers
NM_000137.4
p.P342L
c.1025C>T
1 paper
NM_000137.4
p.L346_A347del1
c.1038_1040delGGC
5 papers
NM_000137.4
p.R341P
c.1022G>C
1 paper
NM_000137.4
p.R341G
c.1021C>G
27 papers
NM_000137.4
p.R341W
c.1021C>T
1 paper
NM_000137.4
p.S348C
c.1043C>G
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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."