Varaico: Literature-Extracted Genetic Variants

Gene:FAHD2B
Variant:p.R33W

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
2 papers
NM_001320848.2
p.R33W
c.97C>T
Surrounding Variants
1 paper
NM_001320848.2
p.A34E
c.101C>A
2 papers
NM_001320848.2
p.G50R
c.148G>C
2 papers
NM_001320848.2
p.G50R
c.148G>A
3 papers
NM_001320848.2
p.V52I
c.154G>A
1 paper
NM_001320848.2
p.M1K
c.2T>A
1 paper
NM_001320848.2
p.T67M
c.200C>T
1 paper
NM_001320848.2
p.L84L
c.250T>C
1 paper
NM_001320848.2
p.E95K
c.283G>A
2 papers
NM_001320848.2
p.W104*
c.311G>A
2 papers
NM_001320848.2
p.W104*
c.312G>A
1 paper
NM_001320848.2
p.M113V
c.337A>G
1 paper
NM_001320848.2
p.K128N
c.384G>C
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