Varaico: Literature-Extracted Genetic Variants

Gene:DEFB125

DEFB125

18 papers

RefSeq Summary

Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a me...

Pfam Domains

Defensin_beta_2aa 26–56UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 125

HGNC Alias Symbol

DEFB-25

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
2 papers
NM_153325.4
p.R16W
c.46C>T
2 papers
NM_153325.4
p.L153F
c.457C>T
1 paper
NM_153325.4
p.M1I
c.3G>T
1 paper
NM_153325.4
p.L6L
c.18G>A
1 paper
NM_153325.4
p.G12E
c.35G>A
1 paper
NM_153325.4
p.C27R
c.79T>C
1 paper
NM_153325.4
p.W28*
c.83G>A
1 paper
NM_153325.4
p.W28*
c.84G>A
1 paper
NM_153325.4
p.R38Q
c.113G>A
1 paper
NM_153325.4
p.P71S
c.211C>T
1 paper
NM_153325.4
p.S87F
c.260C>T
1 paper
NM_153325.4
p.G108fs
c.322_323fs
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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."