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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB108B

DEFB108B

6 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 27–56UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 108B

HGNC Previous Name

defensin, beta 108B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr11:71833231 TC>T

NM_001002035.2

p.F11delFs

c.33delC

Exome: 0.1% (AC=930, hom=4)Genome: 0.0% (AC=72, hom=0)38 overlapping SVs

1 paper

chr11:71833233 TTC>N

NM_001002035.2

p.F12fs

c.34_35fs

exact variant not in gnomAD38 overlapping SVs

1 paper

chr11:71837437 G>T

NM_001002035.2

p.G33C

c.97G>T

Defensin_beta_2

exact variant not in gnomAD38 overlapping SVs

1 paper

chr11:71837446 C>T

NM_001002035.2

p.R36W

c.106C>T

Defensin_beta_2

Exome: 47.8% (AC=697073, hom=173522)Genome: 36.3% (AC=55151, hom=12301)38 overlapping SVs

1 paper

chr11:71837458 C>A

NM_001002035.2

p.L40I

c.118C>A

Defensin_beta_2

exact variant not in gnomAD38 overlapping SVs

1 paper

chr11:71837474 A>T

NM_001002035.2

p.H45L

c.134A>T

Defensin_beta_2

Exome: 58.6% (AC=853364, hom=254806)Genome: 51.2% (AC=77695, hom=20976)38 overlapping SVs

1 paper

chr11:71837498 A>G

NM_001002035.2

p.Q53R

c.158A>G

Defensin_beta_2

Exome: 59.4% (AC=859925, hom=260552)Genome: 58.8% (AC=89263, hom=26762)38 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."