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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB105A

DEFB105A

9 papers

RefSeq Summary

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensin...

Gene Aliases

HGNC Name

defensin beta 105A

HGNC Previous Symbol

DEFB105

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr8:7823381 C>A

NM_152250.3

p.G38Splc

c.112+1G>T

Exome: 0.1% (AC=878, hom=0)Genome: 0.1% (AC=81, hom=0)17 overlapping SVs

1 paper

chr8:7823828 A>T

NM_152250.3

p.I4N

c.11T>A

Exome: 26.4% (AC=20348, hom=82)Genome: 7.0% (AC=11, hom=0)17 overlapping SVs

1 paper

chr8:7823387 G>A

NM_152250.3

p.P36L

c.107C>T

Exome: 0.0% (AC=504, hom=0)Genome: 0.4% (AC=566, hom=0)17 overlapping SVs

1 paper

chr8:7823331 C>T

NM_152250.3

p.G38Splc

c.112+51G>A

Exome: 0.0% (AC=462, hom=1)Genome: 0.0% (AC=53, hom=0)17 overlapping SVs

1 paper

chr8:7822097 G>C

NM_152250.3

p.R50G

c.148C>G

Defensin_beta_2

exact variant not in gnomAD17 overlapping SVs

1 paper

chr8:7822027 C>T

NM_152250.3

p.C73Y

c.218G>A

Defensin_beta_2

Exome: 3.2% (AC=8142, hom=2)Genome: 0.0% (AC=18, hom=0)17 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."