Varaico: Literature-Extracted Genetic Variants

Gene:FAHD2B

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
1–12 of 31 variants
3 papers
NM_001320848.2
p.V52I
c.154G>A
3 papers
NM_001320848.2
p.V222M
c.664G>A
3 papers
NM_001320848.2
p.P281fs
c.841_842fs
2 papers
NM_001320848.2
p.R33W
c.97C>T
2 papers
NM_001320848.2
p.G50R
c.148G>C
2 papers
NM_001320848.2
p.G50R
c.148G>A
2 papers
NM_001320848.2
p.W104*
c.311G>A
2 papers
NM_001320848.2
p.W104*
c.312G>A
2 papers
NM_001320848.2
p.R200H
c.599G>A
1 paper
NM_001320848.2
p.M1K
c.2T>A
1 paper
NM_001320848.2
p.A34E
c.101C>A
1 paper
NM_001320848.2
p.T67M
c.200C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."