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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAAP24

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 33 variants

3 papers

chr19:32976507 C>T

NM_152266.5

p.S158L

c.473C>T

Exome: 4.8% (AC=69924, hom=2352)Genome: 5.2% (AC=7986, hom=267)10 overlapping SVs

3 papers

chr19:32976609 T>C

NM_152266.5

p.I192T

c.575T>C

HHH_2

Exome: 13.0% (AC=190106, hom=14711)Genome: 12.3% (AC=18749, hom=1392)10 overlapping SVs

1 paper

chr19:32973197 A>C

NM_152266.5

p.M1L

c.1A>C

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:32973197 A>G

NM_152266.5

p.M1V

c.1A>G

Exome: 0.0% (AC=18, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:32973197 A>T

NM_152266.5

p.M1L

c.1A>T

exact variant not in gnomAD10 overlapping SVs

1 paper

chr19:32973225 G>C

NM_152266.5

p.G10A

c.29G>C

Exome: 0.2% (AC=2747, hom=76)Genome: 1.7% (AC=2646, hom=79)10 overlapping SVs

1 paper

chr19:32973273 G>A

NM_152266.5

p.R26H

c.77G>A

PND

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=6, hom=0)10 overlapping SVs

1 paper

chr19:32973289 G>A

NM_152266.5

p.A31A

c.93G>A

PND

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=5, hom=0)10 overlapping SVs

1 paper

chr19:32973452 G>T

NM_152266.5

p.G45C

c.133G>T

PND

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:32973461 C>T

NM_152266.5

p.P48S

c.142C>T

PND

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:32973482 A>G

NM_152266.5

p.R55G

c.163A>G

PND

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:32973489 G>A

NM_152266.5

p.C57Y

c.170G>A

PND

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

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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."