Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.Q478*

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.Q478*
c.1432C>T
Surrounding Variants
1 paper
NM_025161.6
p.Q478R
c.1433A>G
1 paper
NM_025161.6
p.R468S
c.1404A>T
1 paper
NM_025161.6
p.R468S
c.1404A>C
1 paper
NM_025161.6
p.W514*
c.1541G>A
1 paper
NM_025161.6
p.Q520P
c.1559A>C
1 paper
NM_025161.6
p.V522V
c.1566G>A
1 paper
NM_025161.6
p.Q539H
c.1617G>T
1 paper
NM_025161.6
p.Q539H
c.1617G>C
3 papers
NM_025161.6
p.T542P
c.1624A>C
1 paper
NM_025161.6
p.R577P
c.1730G>C
1 paper
NM_025161.6
p.L592L
c.1776C>T
1 paper
NM_025161.6
p.G612E
c.1835G>A
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