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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB119

DEFB119

11 papers

RefSeq Summary

This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is fou...

Pfam Domains

Defensin_beta_2aa 27–56UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 119

HGNC Previous Symbol

DEFB120

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr20:31390434 G>T

NM_153289.4

p.P17Q

c.50C>A

exact variant not in gnomAD19 overlapping SVs

1 paper

chr20:31377425 G>A

NM_153289.4

p.L26F

c.76C>T

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)17 overlapping SVs

1 paper

chr20:31377417 G>A

NM_153289.4

p.C28delins

c.83_84delinsGT

Defensin_beta_2

exact variant not in gnomAD17 overlapping SVs

1 paper

chr20:31377410 GTT>N

NM_153289.4

p.N31fs

c.91_92fs

Defensin_beta_2

exact variant not in gnomAD17 overlapping SVs

1 paper

chr20:31377404 CACTG>C

NM_153289.4

p.N31_S32delFs

c.93_96del4

Defensin_beta_2

Exome: 0.1% (AC=1089, hom=13)Genome: 0.7% (AC=1043, hom=10)17 overlapping SVs

1 paper

chr20:31377354 G>C

NM_153289.4

p.C49W

c.147C>G

Defensin_beta_2

exact variant not in gnomAD17 overlapping SVs

1 paper

chr20:31377325 G>A

NM_153289.4

p.S59F

c.176C>T

exact variant not in gnomAD17 overlapping SVs

1 paper

chr20:31377256 C>A

NM_153289.4

p.R82I

c.245G>T

exact variant not in gnomAD17 overlapping SVs

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