Varaico: Literature-Extracted Genetic Variants

Gene:DEFB124

DEFB124

4 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 26–55UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 124

HGNC Alias Symbol

DEFB-24

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001037500.2
p.R26G
c.76C>G
1 paper
NM_001037500.2
p.Q31fs
c.91_92fs
1 paper
NM_001037500.2
p.Y44S
c.131A>C
1 paper
NM_001037500.2
p.M45I
c.135G>T
1 paper
NM_001037500.2
p.M45I
c.135G>C
1 paper
NM_001037500.2
p.M45I
c.135G>A
1 paper
NM_001037500.2
p.C48Y
c.143G>A
1 paper
NM_001037500.2
p.P49L
c.146C>T
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