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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB112

DEFB112

6p12.3 (UCSC)GTEx

3 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 34–64UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 112

HGNC Alias Symbol

DEFB-12

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr6:50043757 A>T

NM_001369057.2

p.C35S

c.103T>A

Defensin_beta_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a66 overlapping SVs

chr6:50043756 C>G

NM_001369057.2

p.C35S

c.104G>C

Defensin_beta_2

exact variant not in gnomAD66 overlapping SVs

chr6:50043589 C>T

NM_001369057.2

p.D91N

c.271G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a66 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."