Varaico: Literature-Extracted Genetic Variants

Gene:FAH
Variant:p.S348C

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.S348C
c.1043C>G
Surrounding Variants
1 paper
NM_000137.4
p.L346_A347del1
c.1038_1040delGGC
3 papers
NM_000137.4
p.L346del1
c.1036_1037delCTG
1 paper
NM_000137.4
p.I351S
c.1052T>G
6 papers
NM_000137.4
p.S352R
c.1054A>C
1 paper
NM_000137.4
p.S352G
c.1054A>G
1 paper
NM_000137.4
p.D344G
c.1031A>G
7 papers
NM_000137.4
p.L345_L346del1
c.1035_1037delCCT
6 papers
NM_000137.4
p.S352R
c.1056C>A
6 papers
NM_000137.4
p.S352R
c.1056C>G
1 paper
NM_000137.4
p.S352S
c.1056C>T
1 paper
NM_000137.4
p.G353W
c.1057G>T
7 papers
NM_000137.4
p.G343R
c.1027G>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."