Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.P6L

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
1 paper
NM_025161.6
p.P6L
c.17C>T
Surrounding Variants
1 paper
NM_025161.6
p.P6insFs
c.16dupC
2 papers
NM_025161.6
p.R9H
c.26G>A
1 paper
NM_025161.6
p.M1I
c.3G>C
1 paper
NM_025161.6
p.A23delFs
c.67delC
1 paper
NM_025161.6
p.V28V
c.84G>C
1 paper
NM_025161.6
p.L29M
c.85C>A
1 paper
NM_025161.6
p.G52R
c.154G>C
1 paper
NM_025161.6
p.G52R
c.154G>A
1 paper
NM_025161.6
p.L69L
c.205C>T
1 paper
NM_025161.6
p.G84C
c.250G>T
1 paper
NM_025161.6
p.L85L
c.255C>T
1 paper
NM_025161.6
p.G109D
c.326G>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."