Varaico: Literature-Extracted Genetic Variants

Gene:FAAP24
Variant:p.V198A

FAAP24

35 papers

RefSeq Summary

FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008].

Pfam Domains

PNDaa 11–134UCSCFANCM pseudonuclease domain
HHH_2aa 163–215UCSCHelix-hairpin-helix motif

Gene Aliases

HGNC Name

FA core complex associated protein 24

HGNC Previous Symbol

C19orf40

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152266.5
p.V198A
c.593T>C
Surrounding Variants
1 paper
NM_152266.5
p.V199A
c.596T>C
3 papers
NM_152266.5
p.I192T
c.575T>C
1 paper
NM_152266.5
p.L187P
c.560T>C
1 paper
NM_152266.5
p.T212M
c.635C>T
1 paper
NM_152266.5
p.T212T
c.636G>A
1 paper
NM_152266.5
p.L176F
c.526C>T
1 paper
NM_152266.5
p.K173E
c.517A>G
1 paper
NM_152266.5
p.G170A
c.509G>C
1 paper
NM_152266.5
p.V169A
c.506T>C
1 paper
NM_152266.5
p.G168A
c.503G>C
1 paper
NM_152266.5
p.V163A
c.488T>C
3 papers
NM_152266.5
p.S158L
c.473C>T
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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."