Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.E384fs

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.E384fs
c.1150_1151fs
Surrounding Variants
1 paper
NM_025161.6
p.Q382L
c.1145A>T
1 paper
NM_025161.6
p.E384_P387delFs
c.1151_1161del11
1 paper
NM_025161.6
p.P377S
c.1129C>T
1 paper
NM_025161.6
p.R357L
c.1070G>T
1 paper
NM_025161.6
p.G356V
c.1067G>T
1 paper
NM_025161.6
p.P411P
c.1233C>G
1 paper
NM_025161.6
p.R412G
c.1234A>G
1 paper
NM_025161.6
p.G355G
c.1065T>G
1 paper
NM_025161.6
p.P336P
c.1008C>T
1 paper
NM_025161.6
p.P336L
c.1007C>T
1 paper
NM_025161.6
p.K333R
c.998A>G
1 paper
NM_025161.6
p.H318Y
c.952C>T
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