Varaico: Literature-Extracted Genetic Variants

Gene:DEFA1B

DEFA1B

95 papers

RefSeq Summary

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfa...

Gene Aliases

HGNC Name

defensin alpha 1B

HGNC Previous Name

defensin, alpha 1B

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
1 paper
NM_001042500.2
p.R2K
c.5G>A
1 paper
NM_001042500.2
p.T3T
c.9C>T
1 paper
NM_001042500.2
p.L4H
c.11T>A
1 paper
NM_001042500.2
p.A9A
c.27C>A
1 paper
NM_001042500.2
p.I10insFs
c.28_29insA
1 paper
NM_001042500.2
p.V13E
c.38T>A
1 paper
NM_001042500.2
p.A26P
c.76G>C
1 paper
NM_001042500.2
p.D27H
c.79G>C
1 paper
NM_001042500.2
p.E28K
c.82G>A
1 paper
NM_001042500.2
p.V29A
c.86T>C
1 paper
NM_001042500.2
p.A32V
c.95C>T
1 paper
NM_001042500.2
p.E34A
c.101A>C
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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."