Varaico: Literature-Extracted Genetic Variants

Gene:DEFB132
Variant:p.L70F

DEFB132

26 papers

RefSeq Summary

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

Pfam Domains

Defensin_beta_2aa 26–56UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 132

HGNC Alias Symbols

RP5-1103G7.6; DEFB32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207469.3
p.L70F
c.208C>T
Surrounding Variants
1 paper
NM_207469.3
p.Q76K
c.226C>A
1 paper
NM_207469.3
p.P63Q
c.188C>A
1 paper
NM_207469.3
p.R78S
c.234G>C
1 paper
NM_207469.3
p.R78S
c.234G>T
1 paper
NM_207469.3
p.Q89K
c.265C>A
2 papers
NM_207469.3
p.Q90H
c.270A>C
1 paper
NM_207469.3
p.Q90H
c.270A>T
1 paper
NM_207469.3
p.C49R
c.145T>C
1 paper
NM_207469.3
p.T91T
c.273G>A
1 paper
NM_207469.3
p.F47L
c.141C>A
1 paper
NM_207469.3
p.F47L
c.141C>G
3 papers
NM_207469.3
p.V93I
c.277G>A
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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."