Varaico: Literature-Extracted Genetic Variants

Gene:DEFB115

DEFB115

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 37–66UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 115

HGNC Alias Symbol

DEFB-15

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001037730.1
p.V17F
c.49G>T
1 paper
NM_001037730.1
p.Q28*
c.82C>T
1 paper
NM_001037730.1
p.P31delFs
c.92delC
1 paper
NM_001037730.1
p.D32Splc
c.95-1G>A
1 paper
NM_001037730.1
p.E51*
c.151G>T
1 paper
NM_001037730.1
p.H76R
c.227A>G
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