Varaico: Literature-Extracted Genetic Variants

Gene:DEFB126
Variant:p.G53_K54delFs

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
Selected Variant
5 papers
NM_030931.4
p.G53_K54delFs
c.159_162del4
Surrounding Variants
3 papers
NM_030931.4
p.G53fs
c.157_158fs
1 paper
NM_030931.4
p.G53_K54del2
c.157_161del6
1 paper
NM_030931.4
p.K54K
c.162A>G
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.M51T
c.152T>C
1 paper
NM_030931.4
p.R65C
c.193C>T
1 paper
NM_030931.4
p.K37Q
c.109A>C
1 paper
NM_030931.4
p.K36delFs
c.106delA
1 paper
NM_030931.4
p.K35delFs
c.105delG
1 paper
NM_030931.4
p.K35*
c.103A>T
1 paper
NM_030931.4
p.C72C
c.216T>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."