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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB135

DEFB135

3 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 36–65UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 135

HGNC Previous Name

defensin, beta 135

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr8:11982344 G>C

NM_001033017.3

p.L8F

c.24G>C

exact variant not in gnomAD19 overlapping SVs

1 paper

chr8:11982344 G>T

NM_001033017.3

p.L8F

c.24G>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

1 paper

chr8:11982372 T>C

NM_001033017.3

p.Y18H

c.52T>C

Exome: 0.0% (AC=41, hom=0)Genome: 0.0% (AC=5, hom=0)19 overlapping SVs

1 paper

chr8:11982378 C>T

NM_001033017.3

p.P20S

c.58C>T

Exome: 0.1% (AC=774, hom=0)Genome: 0.0% (AC=53, hom=0)19 overlapping SVs

1 paper

chr8:11984510 G>A

NM_001033017.3

p.E52K

c.154G>A

Defensin_beta_2

Exome: 0.5% (AC=6917, hom=351)Genome: 3.7% (AC=5618, hom=323)19 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."