Varaico: Literature-Extracted Genetic Variants

Gene:DEFB136

DEFB136

10 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 ...

Pfam Domains

DEFB136aa 25–75UCSCBeta defensin 136

Gene Aliases

HGNC Name

defensin beta 136

HGNC Alias Symbol

DEFB137

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
1 paper
NM_001033018.2
p.F10L
c.28T>C
1 paper
NM_001033018.2
p.F10L
c.30T>G
1 paper
NM_001033018.2
p.F10F
c.30T>C
1 paper
NM_001033018.2
p.F10L
c.30T>A
1 paper
NM_001033018.2
p.R31C
c.91C>T
1 paper
NM_001033018.2
p.R31H
c.92G>A
1 paper
NM_001033018.2
p.V39I
c.115G>A
1 paper
NM_001033018.2
p.F41L
c.121T>C
1 paper
NM_001033018.2
p.F41L
c.123C>G
1 paper
NM_001033018.2
p.F41L
c.123C>A
1 paper
NM_001033018.2
p.F42F
c.126C>T
1 paper
NM_001033018.2
p.P45L
c.134C>T
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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."