Varaico: Literature-Extracted Genetic Variants

Gene:DEFB113
Variant:p.R31G

DEFB113

12 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 34–62UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 113

HGNC Alias Symbol

DEFB-13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001037729.1
p.R31G
c.91A>G
Surrounding Variants
2 papers
NM_001037729.1
p.C35S
c.103T>A
2 papers
NM_001037729.1
p.C35S
c.104G>C
1 paper
NM_001037729.1
p.R26S
c.78A>T
1 paper
NM_001037729.1
p.R26S
c.78A>C
1 paper
NM_001037729.1
p.T25fs
c.73_74fs
1 paper
NM_001037729.1
p.T25insFs
c.73dupA
1 paper
NM_001037729.1
p.R39C
c.115C>T
2 papers
NM_001037729.1
p.R39H
c.116G>A
1 paper
NM_001037729.1
p.G40A
c.119G>C
1 paper
NM_001037729.1
p.P44A
c.130C>G
1 paper
NM_001037729.1
p.S48R
c.142A>C
1 paper
NM_001037729.1
p.S48R
c.144C>G
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