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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB129

DEFB129

9 papers

RefSeq Summary

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member ...

Gene Aliases

HGNC Name

defensin beta 129

HGNC Previous Symbol

C20orf87

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr20:229706 G>C

NM_080831.4

p.A163P

c.487G>C

exact variant not in gnomAD7 overlapping SVs

1 paper

chr20:227304 C>T

NM_080831.4

p.P6S

c.16C>T

Exome: 0.0% (AC=133, hom=0)Genome: 0.0% (AC=23, hom=0)7 overlapping SVs

1 paper

chr20:229296 G>A

NM_080831.4

p.R26H

c.77G>A

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=5, hom=0)7 overlapping SVs

1 paper

chr20:229313 G>T

NM_080831.4

p.G32W

c.94G>T

exact variant not in gnomAD7 overlapping SVs

1 paper

chr20:229405 G>C

NM_080831.4

p.L62F

c.186G>C

exact variant not in gnomAD7 overlapping SVs

1 paper

chr20:229405 G>T

NM_080831.4

p.L62F

c.186G>T

exact variant not in gnomAD7 overlapping SVs

1 paper

chr20:229407 T>C

NM_080831.4

p.I63T

c.188T>C

Exome: 0.3% (AC=4282, hom=14)Genome: 0.2% (AC=295, hom=3)7 overlapping SVs

1 paper

chr20:229714 T>A

NM_080831.4

p.P165P

c.495T>A

exact variant not in gnomAD7 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."