Varaico: Literature-Extracted Genetic Variants

Gene:DEFB114

DEFB114

8 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 28–58UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 114

HGNC Alias Symbol

DEFB-14

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_001037499.2
p.L62M
c.184T>A
1 paper
NM_001037499.2
p.M1I
c.3G>T
1 paper
NM_001037499.2
p.M1I
c.3G>C
1 paper
NM_001037499.2
p.M1I
c.3G>A
1 paper
NM_001037499.2
p.T22S
c.64A>T
1 paper
NM_001037499.2
p.T22S
c.65C>G
1 paper
NM_001037499.2
p.Q46K
c.136C>A
1 paper
NM_001037499.2
p.Y63*
c.189T>G
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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."