Varaico: Literature-Extracted Genetic Variants

Gene:FAHD2A

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
1–12 of 25 variants
5 papers
NM_016044.3
p.T279fs
c.835_836fs
1 paper
NM_016044.3
p.V12A
c.35T>C
1 paper
NM_016044.3
p.M27R
c.80T>G
1 paper
NM_016044.3
p.H36Q
c.108C>A
1 paper
NM_016044.3
p.H36Q
c.108C>G
1 paper
NM_016044.3
p.S94L
c.281C>T
1 paper
NM_016044.3
p.P101A
c.301C>G
1 paper
NM_016044.3
p.R104L
c.311G>T
1 paper
NM_016044.3
p.V109delFs
c.325_326delGT
1 paper
NM_016044.3
p.V109fs
c.325_326fs
1 paper
NM_016044.3
p.C110R
c.328T>C
1 paper
NM_016044.3
p.L149F
c.445C>T
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