Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.D137G

FAAP100

84 papers

RefSeq Summary

FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147...

Pfam Domains

FANCAAaa 449–881UCSCFanconi anemia-associated

Gene Aliases

HGNC Name

FA core complex associated protein 100

HGNC Previous Symbol

C17orf70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_025161.6
p.D137G
c.410A>G
Surrounding Variants
1 paper
NM_025161.6
p.T134N
c.401C>A
1 paper
NM_025161.6
p.R149fs
c.445_446fs
1 paper
NM_025161.6
p.W150*
c.449G>A
1 paper
NM_025161.6
p.W150*
c.450G>A
1 paper
NM_025161.6
p.P158L
c.473C>T
1 paper
NM_025161.6
p.G109D
c.326G>A
1 paper
NM_025161.6
p.P191S
c.571C>T
1 paper
NM_025161.6
p.H192fs
c.574_575fs
1 paper
NM_025161.6
p.H192delFs
c.574delG
1 paper
NM_025161.6
p.T219M
c.656C>T
1 paper
NM_025161.6
p.L220V
c.658C>G
1 paper
NM_025161.6
p.G248G
c.744C>A
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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."