Varaico: Literature-Extracted Genetic Variants

Gene:DEFB4A

DEFB4A

26 papers

RefSeq Summary

Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibi...

Pfam Domains

Defensin_betaaa 27–62UCSCBeta defensin
Defensin_betaaa 27–62UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 4A

HGNC Previous Symbols

DEFB102; DEFB2; DEFB4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
2 papers
NM_004942.4
p.M16I
c.48G>A
2 papers
NM_004942.4
p.M16I
c.48G>C
2 papers
NM_004942.4
p.M16I
c.48G>T
2 papers
NM_004942.4
p.L32I
c.94C>A
2 papers
NM_004942.4
p.K63N
c.189G>C
2 papers
NM_004942.4
p.K63N
c.189G>T
1 paper
NM_004942.4
p.R2K
c.5G>A
1 paper
NM_004942.4
p.L4L
c.12G>A
1 paper
NM_004942.4
p.L4F
c.12G>C
1 paper
NM_004942.4
p.F8L
c.22T>C
1 paper
NM_004942.4
p.F8L
c.24C>A
1 paper
NM_004942.4
p.F8L
c.24C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."