Varaico: Literature-Extracted Genetic Variants

Gene:FAHD2A
Variant:p.P281fs

FAHD2A

23 papers

Pfam Domains

FAA_hydrolaseaa 107–314UCSCFumarylacetoacetate (FAA) hydrolase C-terminal

Gene Aliases

HGNC Name

fumarylacetoacetate hydrolase domain containing 2A

HGNC Alias Symbol

CGI-105

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016044.3
p.P281fs
c.841_842fs
Surrounding Variants
1 paper
NM_016044.3
p.T279insFs
c.836dupC
5 papers
NM_016044.3
p.T279fs
c.835_836fs
1 paper
NM_016044.3
p.T279delFs
c.836delC
1 paper
NM_016044.3
p.G278V
c.833G>T
1 paper
NM_016044.3
p.G307R
c.919G>C
1 paper
NM_016044.3
p.E242K
c.724G>A
1 paper
NM_016044.3
p.P216L
c.647C>T
1 paper
NM_016044.3
p.R194C
c.580C>T
1 paper
NM_016044.3
p.S192T
c.575G>C
1 paper
NM_016044.3
p.V182L
c.544G>C
1 paper
NM_016044.3
p.V182L
c.544G>T
1 paper
NM_016044.3
p.W158*
c.474G>A
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