Varaico: Literature-Extracted Genetic Variants

Gene:DEFB116

DEFB116

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 39–68UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 116

HGNC Alias Symbol

DEFB-16

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001037731.1
p.M1_S2delFs
c.3_4delAC
1 paper
NM_001037731.1
p.L42V
c.124C>G
1 paper
NM_001037731.1
p.K66T
c.197A>C
1 paper
NM_001037731.1
p.*103G
c.307T>G
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