Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.P441A

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
3 papers
NM_025161.6
p.P441A
c.1321C>G
Surrounding Variants
1 paper
NM_025161.6
p.M446I
c.1338G>T
1 paper
NM_025161.6
p.M446I
c.1338G>C
1 paper
NM_025161.6
p.M446I
c.1338G>A
1 paper
NM_025161.6
p.D435N
c.1303G>A
1 paper
NM_025161.6
p.C432Y
c.1295G>A
1 paper
NM_025161.6
p.R428C
c.1282C>T
1 paper
NM_025161.6
p.G427C
c.1279G>T
1 paper
NM_025161.6
p.E457K
c.1369G>A
1 paper
NM_025161.6
p.S424P
c.1270T>C
1 paper
NM_025161.6
p.R412G
c.1234A>G
1 paper
NM_025161.6
p.P411P
c.1233C>G
1 paper
NM_025161.6
p.E384_P387delFs
c.1151_1161del11
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