Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEFA3

DEFA3

32 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 1–52UCSCDefensin propeptide

Defensin_1aa 66–94UCSCMammalian defensin

Gene Aliases

HGNC Name

defensin alpha 3

HGNC Previous Symbol

DEF3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr8:7016081 T>G

NM_005217.4

p.D65A

c.194A>C

Exome: 8.4% (AC=97230, hom=13986)Genome: 49.0% (AC=49485, hom=4127)21 overlapping SVs

1 paper

chr8:7016849 A>G

NM_005217.4

p.M1T

c.2T>C

Defensin_propep

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)20 overlapping SVs

1 paper

chr8:7016846 C>T

NM_005217.4

p.R2K

c.5G>A

Defensin_propep

Exome: 0.0% (AC=3, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr8:7016839 G>A

NM_005217.4

p.L4L

c.12C>T

Defensin_propep

Exome: 0.4% (AC=4015, hom=2)Genome: 0.4% (AC=480, hom=0)20 overlapping SVs

1 paper

chr8:7016813 A>T

NM_005217.4

p.V13E

c.38T>A

Defensin_propep

exact variant not in gnomAD20 overlapping SVs

1 paper

chr8:7016772 C>T

NM_005217.4

p.D27N

c.79G>A

Defensin_propep

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr8:7016769 C>T

NM_005217.4

p.E28K

c.82G>A

Defensin_propep

exact variant not in gnomAD20 overlapping SVs

1 paper

chr8:7016765 A>G

NM_005217.4

p.V29A

c.86T>C

Defensin_propep

Exome: 0.0% (AC=0, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr8:7016737 C>T

NM_005217.4

p.A38A

c.114G>A

Defensin_propep

Exome: 0.0% (AC=101, hom=0)Genome: 0.0% (AC=13, hom=0)20 overlapping SVs

1 paper

chr8:7016732 A>G

NM_005217.4

p.I40T

c.119T>C

Defensin_propep

Exome: 0.0% (AC=67, hom=0)Genome: 0.1% (AC=116, hom=0)20 overlapping SVs

1 paper

chr8:7015995 A>T

NM_005217.4

p.C94S

c.280T>A

Defensin_1

exact variant not in gnomAD21 overlapping SVs

1 paper

chr8:7015994 C>G

NM_005217.4

p.C94S

c.281G>C

Defensin_1

exact variant not in gnomAD21 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."