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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB1

DEFB1

66 papers

RefSeq Summary

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimi...

Pfam Domains

Defensin_betaaa 33–68UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 1

HGNC Alias Symbols

HBD-1; DEFB-1; DEFB101; HBD1; BD1; MGC51822

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 48 variants

7 papers

chr8:6870776 C>T

NM_005218.4

p.V38I

c.112G>A

Defensin_beta

Exome: 0.5% (AC=6637, hom=275)Genome: 3.6% (AC=5464, hom=316)26 overlapping SVs

5 papers

chr8:6877853 C>T

NM_005218.4

p.R2K

c.5G>A

Exome: 0.0% (AC=4, hom=0)Genome: n/a26 overlapping SVs

4 papers

chr8:6870689 A>T

NM_005218.4

p.C67S

c.199T>A

Defensin_beta

Exome: 0.1% (AC=857, hom=2)Genome: 0.0% (AC=67, hom=0)26 overlapping SVs

4 papers

chr8:6870688 C>G

NM_005218.4

p.C67S

c.200G>C

Defensin_beta

exact variant not in gnomAD26 overlapping SVs

3 papers

chr8:6877806 T>C

NM_005218.4

p.M18V

c.52A>G

exact variant not in gnomAD26 overlapping SVs

2 papers

chr8:6870817 A>C

NM_005218.4

p.F24C

c.71T>G

Exome: 0.0% (AC=200, hom=1)Genome: 0.0% (AC=68, hom=0)26 overlapping SVs

2 papers

chr8:6870784 T>C

NM_005218.4

p.Y35C

c.104A>G

Defensin_beta

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=4, hom=0)26 overlapping SVs

2 papers

chr8:6870777 G>T

NM_005218.4

p.C37*

c.111C>A

Defensin_beta

Exome: 0.0% (AC=396, hom=3)Genome: 0.2% (AC=344, hom=2)26 overlapping SVs

2 papers

chr8:6870758 A>C

NM_005218.4

p.C44G

c.130T>G

Defensin_beta

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:6877850 G>T

NM_005218.4

p.T3N

c.8C>A

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:6877843 G>C

NM_005218.4

p.Y5*

c.15C>G

Exome: 0.0% (AC=260, hom=1)Genome: 0.0% (AC=26, hom=0)26 overlapping SVs

1 paper

chr8:6877843 G>T

NM_005218.4

p.Y5*

c.15C>A

Exome: 0.0% (AC=7, hom=0)Genome: n/a26 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."