Varaico: Literature-Extracted Genetic Variants

Gene:DEFB103B

DEFB103B

20 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 103, which h...

Pfam Domains

Defensin_betaaa 29–64UCSCBeta defensin
Defensin_betaaa 29–64UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 103B

HGNC Previous Name

defensin, beta 103B

Papers
RefSeq ID
Protein change
DNA change
7 papers
NM_018661.4
p.V18I
c.52G>A
1 paper
NM_018661.4
p.R2K
c.5G>A
1 paper
NM_018661.4
p.H4Q
c.12T>A
1 paper
NM_018661.4
p.G23G
c.69A>G
1 paper
NM_018661.4
p.C33fs
c.97_98fs
1 paper
NM_018661.4
p.C33_V35Fs
c.98_104delinsTCCFs
1 paper
NM_018661.4
p.L43L
c.129C>G
1 paper
NM_018661.4
p.E49A
c.146A>C
1 paper
NM_018661.4
p.R64P
c.191G>C
1 paper
NM_018661.4
p.R65K
c.194G>A
1 paper
NM_018661.4
p.K67E
c.199A>G
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