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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIBF1

Variant:p.D637A

PIBF1

96 papers

RefSeq Summary

This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to ...

Gene Aliases

HGNC Name

progesterone immunomodulatory binding factor 1

HGNC Previous Symbol

C13orf24

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr13:72965350 A>C

NM_006346.4

p.D637A

c.1910A>C

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

Surrounding Variants

3 papers

chr13:72965328 A>G

NM_006346.4

p.I630V

c.1888A>G

Exome: 3.0% (AC=41989, hom=869)Genome: 2.2% (AC=3309, hom=57)16 overlapping SVs

1 paper

chr13:72973598 AAT>N

NM_006346.4

p.N658fs

c.1972_1973fs

exact variant not in gnomAD16 overlapping SVs

1 paper

chr13:72973601 A>G

NM_006346.4

p.K659E

c.1975A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr13:72973671 G>A

NM_006346.4

p.R682H

c.2045G>A

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=9, hom=0)16 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."