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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB131A

DEFB131A

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 ...

Pfam Domains

Defensin_beta_2aa 28–57UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 131A

HGNC Previous Symbol

DEFB131

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr4:9444552 GTC>N

NM_001040448.3

p.V7fs

c.19_20fs

exact variant not in gnomAD26 overlapping SVs

1 paper

chr4:9444559 G>C

NM_001040448.3

p.G9A

c.26G>C

exact variant not in gnomAD26 overlapping SVs

1 paper

chr4:9444564 C>A

NM_001040448.3

p.L11I

c.31C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr4:9444572 G>A

NM_001040448.3

p.L13L

c.39G>A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

1 paper

chr4:9450438 C>T

NM_001040448.3

p.A46V

c.137C>T

Defensin_beta_2

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

1 paper

chr4:9450484 C>A

NM_001040448.3

p.I61I

c.183C>A

Exome: 0.0% (AC=180, hom=0)Genome: 0.1% (AC=207, hom=0)26 overlapping SVs

1 paper

chr4:9450509 T>TN

NM_001040448.3

p.W70fs

c.208_209fs

exact variant not in gnomAD27 overlapping SVs

1 paper

chr4:9450511 G>C

NM_001040448.3

p.W70C

c.210G>C

Exome: 0.0% (AC=622, hom=3)Genome: 0.0% (AC=39, hom=0)27 overlapping SVs

1 paper

chr4:9450511 G>T

NM_001040448.3

p.W70C

c.210G>T

Exome: 0.0% (AC=91, hom=0)Genome: 0.0% (AC=7, hom=0)27 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."