Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100

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
1–12 of 87 variants
3 papers
NM_025161.6
p.P441A
c.1321C>G
3 papers
NM_025161.6
p.T542P
c.1624A>C
3 papers
NM_025161.6
p.A694P
c.2080G>C
2 papers
NM_025161.6
p.R9H
c.26G>A
2 papers
NM_025161.6
p.D137G
c.410A>G
2 papers
NM_025161.6
p.E384fs
c.1150_1151fs
2 papers
NM_025161.6
p.P660L
c.1979C>T
2 papers
NM_025161.6
p.Q783E
c.2347C>G
2 papers
NM_025161.6
p.Q864*
c.2590C>T
1 paper
NM_025161.6
p.M1I
c.3G>C
1 paper
NM_025161.6
p.P6L
c.17C>T
1 paper
NM_025161.6
p.P6insFs
c.16dupC
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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."