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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB104B

DEFB104B

11 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...

Pfam Domains

Defensin_beta_2aa 29–58UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 104B

HGNC Previous Name

defensin, beta 104B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr8:7475041 T>C

NM_001040702.1

p.I10V

c.28A>G

Exome: 7.6% (AC=47924, hom=4362)Genome: 6.1% (AC=5620, hom=182)16 overlapping SVs

3 papers

chr8:7470462 C>T

NM_001040702.1

p.R38Q

c.113G>A

Defensin_beta_2

Exome: 11.9% (AC=20783, hom=1)Genome: 5.8% (AC=404, hom=0)16 overlapping SVs

1 paper

chr8:7470488 T>C

NM_001040702.1

p.I29M

c.87A>G

Defensin_beta_2

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:7470472 CAGTCC>GA

NM_001040702.1

p.G33_A35Fs

c.98_104delinsTCCFs

Defensin_beta_2

exact variant not in gnomAD16 overlapping SVs

1 paper

chr8:7470469 G>A

NM_001040702.1

p.R36C

c.106C>T

Defensin_beta_2

Exome: 4.7% (AC=8303, hom=2)Genome: 2.4% (AC=137, hom=0)16 overlapping SVs

1 paper

chr8:7470406 A>C

NM_001040702.1

p.C57G

c.169T>G

Defensin_beta_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 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."