Varaico: Literature-Extracted Genetic Variants

Gene:DEFB103A

DEFB103A

31 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, an anti...

Gene Aliases

HGNC Name

defensin beta 103A

HGNC Previous Symbols

DEFB3; DEFB103

Papers
RefSeq ID
Protein change
DNA change
6 papers
NM_001081551.4
p.V18I
c.52G>A
1 paper
NM_001081551.4
p.R2K
c.5G>A
1 paper
NM_001081551.4
p.H4Q
c.12T>A
1 paper
NM_001081551.4
p.G23del1
c.67_68delGGA
1 paper
NM_001081551.4
p.C33fs
c.97_98fs
1 paper
NM_001081551.4
p.C33_V35Fs
c.98_104delinsTCCFs
1 paper
NM_001081551.4
p.L43L
c.129C>G
1 paper
NM_001081551.4
p.E49A
c.146A>C
1 paper
NM_001081551.4
p.I52M
c.156C>G
1 paper
NM_001081551.4
p.R64P
c.191G>C
1 paper
NM_001081551.4
p.R65K
c.194G>A
1 paper
NM_001081551.4
p.K67E
c.199A>G
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