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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFB127

DEFB127

15 papers

RefSeq Summary

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

Pfam Domains

Defensin_beta_2aa 23–54UCSCBeta defensin

Gene Aliases

HGNC Name

defensin beta 127

HGNC Previous Symbol

C20orf73

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

7 papers

chr20:158815 G>C

NM_139074.4

p.G31R

c.91G>C

Defensin_beta_2

exact variant not in gnomAD9 overlapping SVs

6 papers

chr20:158815 G>A

NM_139074.4

p.G31R

c.91G>A

Defensin_beta_2

Exome: 35.8% (AC=522978, hom=96931)Genome: 29.3% (AC=44609, hom=7953)9 overlapping SVs

4 papers

chr20:158935 C>A

NM_139074.4

p.R71S

c.211C>A

Exome: 35.8% (AC=523641, hom=96911)Genome: 29.3% (AC=44582, hom=7939)9 overlapping SVs

1 paper

chr20:157584 A>G

NM_139074.4

p.K14E

c.40A>G

exact variant not in gnomAD12 overlapping SVs

1 paper

chr20:158804 A>C

NM_139074.4

p.N27T

c.80A>C

Defensin_beta_2

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:158876 G>T

NM_139074.4

p.R51I

c.152G>T

Defensin_beta_2

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:158887 C>T

NM_139074.4

p.L55F

c.163C>T

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:159001 A>C

NM_139074.4

p.S93R

c.277A>C

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:159003 C>A

NM_139074.4

p.S93R

c.279C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr20:159003 C>G

NM_139074.4

p.S93R

c.279C>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr20:159009 G>T

NM_139074.4

p.K95N

c.285G>T

exact variant not in gnomAD9 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."