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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFA5

DEFA5

12 papers

RefSeq Summary

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfa...

Pfam Domains

Defensin_propepaa 1–50UCSCDefensin propeptide

Defensin_1aa 65–93UCSCMammalian defensin

Gene Aliases

HGNC Name

defensin alpha 5

HGNC Previous Symbol

DEF5

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr8:7056693 C>T

NM_021010.3

p.R2K

c.5G>A

Defensin_propep

Exome: 0.0% (AC=6, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr8:7056555 C>T

NM_021010.3

p.G48E

c.143G>A

Defensin_propep

Exome: 0.0% (AC=12, hom=0)Genome: n/a22 overlapping SVs

1 paper

chr8:7055542 AC>A

NM_021010.3

p.G58delFs

c.173delC

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:7055523 A>T

NM_021010.3

p.C65S

c.193T>A

Defensin_1

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:7055522 C>A

NM_021010.3

p.C65F

c.194G>T

Defensin_1

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:7055522 C>G

NM_021010.3

p.C65S

c.194G>C

Defensin_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

1 paper

chr8:7055517 A>T

NM_021010.3

p.C67S

c.199T>A

Defensin_1

Exome: n/aGenome: 0.0% (AC=2, hom=0)23 overlapping SVs

1 paper

chr8:7055516 C>G

NM_021010.3

p.C67S

c.200G>C

Defensin_1

exact variant not in gnomAD23 overlapping SVs

1 paper

chr8:7055509 G>A

NM_021010.3

p.T69T

c.207C>T

Defensin_1

Exome: 37.1% (AC=542050, hom=102241)Genome: 32.5% (AC=49383, hom=8673)23 overlapping SVs

1 paper

chr8:7055492 C>A

NM_021010.3

p.R75L

c.224G>T

Defensin_1

Exome: 0.0% (AC=7, hom=1)Genome: 0.0% (AC=2, hom=0)23 overlapping SVs

1 paper

chr8:7055454 G>T

NM_021010.3

p.L88I

c.262C>A

Defensin_1

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=75, hom=0)23 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."