Varaico: Literature-Extracted Genetic Variants

Gene:DEFB132
Variant:p.W41C

DEFB132

26 papers

RefSeq Summary

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta de...

Pfam Domains

Defensin_beta_2aa 26–56UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 132

HGNC Alias Symbols

RP5-1103G7.6; DEFB32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_207469.3
p.W41C
c.123G>C
Surrounding Variants
1 paper
NM_207469.3
p.W41C
c.123G>T
1 paper
NM_207469.3
p.W41S
c.122G>C
1 paper
NM_207469.3
p.F47L
c.139T>C
1 paper
NM_207469.3
p.F47L
c.141C>A
1 paper
NM_207469.3
p.F47L
c.141C>G
1 paper
NM_207469.3
p.C49R
c.145T>C
1 paper
NM_207469.3
p.G33V
c.98G>T
1 paper
NM_207469.3
p.G23C
c.67G>T
1 paper
NM_207469.3
p.P63Q
c.188C>A
1 paper
NM_207469.3
p.L70F
c.208C>T
1 paper
NM_207469.3
p.A20Splc
c.59-33C>T
1 paper
NM_207469.3
p.Q76K
c.226C>A
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