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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CABP5

CABP5

26 papers

RefSeq Summary

The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular sign...

Pfam Domains

EF-hand_7aa 30–94UCSCEF-hand domain pair

EF-hand_7aa 107–172UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calcium binding protein 5

HGNC Previous Symbol

CABP3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 27 variants

4 papers

chr19:48040667 G>A

NM_019855.5

p.T59M

c.176C>T

EF-hand_7

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)14 overlapping SVs

2 papers

chr19:48043862 G>A

NM_019855.5

p.R21W

c.61C>T

Exome: 0.0% (AC=162, hom=1)Genome: 0.0% (AC=12, hom=0)13 overlapping SVs

2 papers

chr19:48041583 A>C

NM_019855.5

p.D28E

c.84T>G

Exome: 0.1% (AC=1228, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

2 papers

chr19:48041583 A>T

NM_019855.5

p.D28E

c.84T>A

exact variant not in gnomAD14 overlapping SVs

2 papers

chr19:48040704 AC>A

NM_019855.5

p.G46delFs

c.138delC

EF-hand_7

exact variant not in gnomAD14 overlapping SVs

2 papers

chr19:48040649 G>C

NM_019855.5

p.T65R

c.194C>G

EF-hand_7

Exome: 9.9% (AC=144654, hom=7482)Genome: 8.2% (AC=12494, hom=569)14 overlapping SVs

1 paper

chr19:48043891 A>G

NM_019855.5

p.F11S

c.32T>C

exact variant not in gnomAD13 overlapping SVs

1 paper

chr19:48041581 T>G

NM_019855.5

p.E29A

c.86A>C

Exome: 0.0% (AC=88, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

1 paper

chr19:48041580 C>T

NM_019855.5

p.E29E

c.87G>A

Exome: 7.4% (AC=108020, hom=4279)Genome: 6.9% (AC=10560, hom=377)14 overlapping SVs

1 paper

chr19:48041575 T>G

NM_019855.5

p.E31A

c.92A>C

EF-hand_7

Exome: 0.0% (AC=6, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr19:48040742 C>T

NM_019855.5

p.R34Q

c.101G>A

EF-hand_7

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=3, hom=0)14 overlapping SVs

1 paper

chr19:48040721 T>C

NM_019855.5

p.D41G

c.122A>G

EF-hand_7

Exome: 0.0% (AC=155, hom=0)Genome: 0.0% (AC=10, hom=0)14 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."