Varaico: Literature-Extracted Genetic Variants

Gene:FAHD2B
Variant:p.V187M

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.V187M
c.559G>A
Surrounding Variants
1 paper
NM_001320848.2
p.T198fs
c.592_593fs
1 paper
NM_001320848.2
p.T198_R199delFs
c.594_595delTT
1 paper
NM_001320848.2
p.R200C
c.598C>T
2 papers
NM_001320848.2
p.R200H
c.599G>A
3 papers
NM_001320848.2
p.V222M
c.664G>A
1 paper
NM_001320848.2
p.E161Q
c.481G>C
1 paper
NM_001320848.2
p.V239L
c.715G>T
1 paper
NM_001320848.2
p.V239L
c.715G>C
1 paper
NM_001320848.2
p.E257Q
c.769G>C
1 paper
NM_001320848.2
p.T279I
c.836C>T
1 paper
NM_001320848.2
p.T279T
c.837C>A
3 papers
NM_001320848.2
p.P281fs
c.841_842fs
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