Varaico: Literature-Extracted Genetic Variants

Gene:DEFB118

DEFB118

14 papers

RefSeq Summary

This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of th...

Pfam Domains

Defensin_beta_2aa 26–55UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 118

HGNC Previous Symbol

C20orf63

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
2 papers
NM_054112.3
p.C34R
c.100T>C
1 paper
NM_054112.3
p.K26fs
c.76_77fs
1 paper
NM_054112.3
p.K26fs
c.76_77fs
1 paper
NM_054112.3
p.R30S
c.90A>C
1 paper
NM_054112.3
p.R30S
c.90A>T
1 paper
NM_054112.3
p.C38R
c.112T>C
1 paper
NM_054112.3
p.R52L
c.155G>T
1 paper
NM_054112.3
p.R64*
c.190C>T
1 paper
NM_054112.3
p.R64Q
c.191G>A
1 paper
NM_054112.3
p.A67A
c.201G>A
1 paper
NM_054112.3
p.V103I
c.307G>A
1 paper
NM_054112.3
p.H120R
c.359A>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."