Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.Q783E

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.Q783E
c.2347C>G
Surrounding Variants
1 paper
NM_025161.6
p.Q788R
c.2363A>G
1 paper
NM_025161.6
p.H802Y
c.2404C>T
1 paper
NM_025161.6
p.Q809_T810Splc
c.2427+2T>G
1 paper
NM_025161.6
p.G761D
c.2282G>A
1 paper
NM_025161.6
p.Q755Q
c.2265G>A
1 paper
NM_025161.6
p.R749*
c.2245C>T
1 paper
NM_025161.6
p.A741G
c.2222C>G
1 paper
NM_025161.6
p.T817A
c.2449A>G
1 paper
NM_025161.6
p.D824Y
c.2470G>T
1 paper
NM_025161.6
p.R831H
c.2492G>A
1 paper
NM_025161.6
p.E838K
c.2512G>A
1 paper
NM_025161.6
p.A718D
c.2153C>A
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