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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB110

DEFB110

8 papers

RefSeq Summary

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensin...

Pfam Domains

Defensin_beta_2aa 34–64UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 110

HGNC Alias Symbols

DEFB-10; DEFB-11; DEFB111

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr6:50021915 G>GN

NM_001037497.2

p.F7fs

c.19_20fs

exact variant not in gnomAD67 overlapping SVs

1 paper

chr6:50021915 GA>G

NM_001037497.2

p.F7delFs

c.20delA

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)67 overlapping SVs

1 paper

chr6:50021889 AT>A

NM_001037497.2

p.I16delFs

c.46delT

exact variant not in gnomAD67 overlapping SVs

1 paper

chr6:50019104 T>C

NM_001037497.2

p.Y26C

c.77A>G

Exome: 0.0% (AC=45, hom=0)Genome: 0.0% (AC=5, hom=0)67 overlapping SVs

1 paper

chr6:50019096 A>G

NM_001037497.2

p.L29L

c.85T>C

exact variant not in gnomAD67 overlapping SVs

1 paper

chr6:50019026 C>T

NM_001037497.2

p.R52K

c.155G>A

Defensin_beta_2

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)67 overlapping SVs

1 paper

chr6:50019021 C>A

NM_001037497.2

p.A54S

c.160G>T

Defensin_beta_2

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)67 overlapping SVs

1 paper

chr6:50019020 G>T

NM_001037497.2

p.A54D

c.161C>A

Defensin_beta_2

exact variant not in gnomAD67 overlapping SVs

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