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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DCD

DCD

10 papers

RefSeq Summary

This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat an...

Pfam Domains

Dermcidinaa 21–103UCSCDermcidin, antibiotic peptide

Gene Aliases

HGNC Name

dermcidin

HGNC Alias Symbols

AIDD; DSEP; HCAP; DCD-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr12:54645236 AGC>N

NM_053283.4

p.A76fs

c.226_227fs

Dermcidin

exact variant not in gnomAD26 overlapping SVs

2 papers

chr12:54645236 C>CT

NM_053283.4

p.K75insFs

c.225dupA

Dermcidin

Exome: 0.2% (AC=2489, hom=4)Genome: 0.1% (AC=152, hom=0)26 overlapping SVs

1 paper

chr12:54648263 C>T

NM_053283.4

p.G14E

c.41G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a25 overlapping SVs

1 paper

chr12:54645251 C>T

NM_053283.4

p.D71N

c.211G>A

Dermcidin

Exome: 0.7% (AC=10903, hom=49)Genome: 0.5% (AC=774, hom=5)26 overlapping SVs

1 paper

chr12:54645249 G>C

NM_053283.4

p.D71E

c.213C>G

Dermcidin

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:54645249 G>T

NM_053283.4

p.D71E

c.213C>A

Dermcidin

Exome: 0.0% (AC=1, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr12:54645243 TG>T

NM_053283.4

p.A73delFs

c.218delG

Dermcidin

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:54645234 A>AN

NM_053283.4

p.A76fs

c.226_227fs

Dermcidin

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:54645212 C>T

NM_053283.4

p.G84R

c.250G>A

Dermcidin

Exome: 0.0% (AC=2, hom=0)Genome: n/a26 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."