Varaico: Literature-Extracted Genetic Variants

Gene:DEFB126

DEFB126

28 papers

RefSeq Summary

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member ...

Gene Aliases

HGNC Name

defensin beta 126

HGNC Previous Symbol

C20orf8

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
10 papers
NM_030931.4
p.P106delFs
c.317_318delCC
5 papers
NM_030931.4
p.G53_K54delFs
c.159_162del4
5 papers
NM_030931.4
p.P106fs
c.316_317fs
3 papers
NM_030931.4
p.G53fs
c.157_158fs
3 papers
NM_030931.4
p.T105fs
c.313_314fs
2 papers
NM_030931.4
p.M51T
c.152T>C
2 papers
NM_030931.4
p.Q55fs
c.163_164fs
2 papers
NM_030931.4
p.Q55fs
c.163_164fs
2 papers
NM_030931.4
p.P106fs
c.316_317fs
1 paper
NM_030931.4
p.L5M
c.13C>A
1 paper
NM_030931.4
p.K35*
c.103A>T
1 paper
NM_030931.4
p.K35delFs
c.105delG
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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."