Varaico: Literature-Extracted Genetic Variants

Gene:DEFB123

DEFB123

3 papers

RefSeq Summary

Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta def...

Pfam Domains

Defensin_beta_2aa 24–53UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 123

HGNC Alias Symbol

DEFB-23

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_153324.4
p.S15C
c.44C>G
1 paper
NM_153324.4
p.C46R
c.136T>C
1 paper
NM_153324.4
p.C46W
c.138C>G
1 paper
NM_153324.4
p.I47L
c.139A>C
1 paper
NM_153324.4
p.I47L
c.139A>T
1 paper
NM_153324.4
p.V54V
c.162G>A
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