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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCL28

Variant:p.A19V

CCL28

70 papers

RefSeq Summary

This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are p...

Pfam Domains

IL8aa 28–88UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

C-C motif chemokine ligand 28

HGNC Alias Symbols

SCYA28; MEC; CCK1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:43412261 G>A

NM_148672.3

p.A19V

c.56C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a64 overlapping SVs

Surrounding Variants

1 paper

chr5:43412264 T>A

NM_148672.3

p.H18L

c.53A>T

exact variant not in gnomAD64 overlapping SVs

1 paper

chr5:43412264 T>C

NM_148672.3

p.H18R

c.53A>G

Exome: 0.0% (AC=150, hom=0)Genome: 0.1% (AC=154, hom=1)64 overlapping SVs

1 paper

chr5:43412273 G>A

NM_148672.3

p.A15V

c.44C>T

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=1, hom=0)64 overlapping SVs

1 paper

chr5:43412275 A>G

NM_148672.3

p.C14C

c.42T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a64 overlapping SVs

1 paper

chr5:43412243 C>A

NM_148672.3

p.A22Splc

c.64+10G>T

Exome: 0.0% (AC=241, hom=4)Genome: 0.0% (AC=10, hom=0)64 overlapping SVs

1 paper

chr5:43412295 T>C

NM_148672.3

p.I8V

c.22A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a64 overlapping SVs

1 paper

chr5:43412308 C>CT

NM_148672.3

p.Q3_R4insFs

c.9_10insA

exact variant not in gnomAD64 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."