Varaico: Literature-Extracted Genetic Variants

Gene:FAHD2B
Variant:p.P281delFs

FAHD2B

34 papers

Pfam Domains

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

Gene Aliases

HGNC Name

fumarylacetoacetate hydrolase domain containing 2B

HGNC Alias Symbol

DKFZp434N062

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001320848.2
p.P281delFs
c.842delG
Surrounding Variants
3 papers
NM_001320848.2
p.P281fs
c.841_842fs
1 paper
NM_001320848.2
p.T279T
c.837C>A
1 paper
NM_001320848.2
p.T279I
c.836C>T
1 paper
NM_001320848.2
p.E302V
c.905A>T
1 paper
NM_001320848.2
p.E305*
c.913G>T
1 paper
NM_001320848.2
p.E257Q
c.769G>C
1 paper
NM_001320848.2
p.V308A
c.923T>C
1 paper
NM_001320848.2
p.I309V
c.925A>G
1 paper
NM_001320848.2
p.V239L
c.715G>T
1 paper
NM_001320848.2
p.V239L
c.715G>C
3 papers
NM_001320848.2
p.V222M
c.664G>A
2 papers
NM_001320848.2
p.R200H
c.599G>A
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