Varaico: Literature-Extracted Genetic Variants

Gene:FAAP100
Variant:p.S688R

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.S688R
c.2064C>G
Surrounding Variants
1 paper
NM_025161.6
p.S688R
c.2064C>A
1 paper
NM_025161.6
p.S688R
c.2062A>C
3 papers
NM_025161.6
p.A694P
c.2080G>C
1 paper
NM_025161.6
p.G670A
c.2009G>C
2 papers
NM_025161.6
p.P660L
c.1979C>T
1 paper
NM_025161.6
p.A718D
c.2153C>A
1 paper
NM_025161.6
p.E626K
c.1876G>A
1 paper
NM_025161.6
p.S617L
c.1850C>T
1 paper
NM_025161.6
p.G612E
c.1835G>A
1 paper
NM_025161.6
p.L592L
c.1776C>T
1 paper
NM_025161.6
p.R577P
c.1730G>C
3 papers
NM_025161.6
p.T542P
c.1624A>C
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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."