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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCL17

CCL17

26 papers

RefSeq Summary

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory...

Pfam Domains

IL8aa 31–88UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

C-C motif chemokine ligand 17

HGNC Previous Symbol

SCYA17

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 43 variants

2 papers

chr16:57415101 C>T

NM_002987.3

p.R31W

c.91C>T

IL8

Exome: 0.0% (AC=78, hom=0)Genome: 0.0% (AC=7, hom=0)7 overlapping SVs

2 papers

chr16:57415775 G>A

NM_002987.3

p.V67M

c.199G>A

IL8

Exome: 3.2% (AC=46920, hom=880)Genome: 2.6% (AC=3931, hom=71)7 overlapping SVs

1 paper

chr16:57413936 G>GTAC

NM_002987.3

p.A2ins1

c.4_5insTAC

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:57413947 G>C

NM_002987.3

p.K5N

c.15G>C

exact variant not in gnomAD7 overlapping SVs

1 paper

chr16:57413947 G>T

NM_002987.3

p.K5N

c.15G>T

Exome: 0.2% (AC=3039, hom=96)Genome: 2.2% (AC=3293, hom=137)7 overlapping SVs

1 paper

chr16:57413955 C>T

NM_002987.3

p.A8V

c.23C>T

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr16:57413960 G>T

NM_002987.3

p.V10F

c.28G>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr16:57413963 A>G

NM_002987.3

p.T11A

c.31A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr16:57413990 C>T

NM_002987.3

p.H20Y

c.58C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr16:57413999 G>A

NM_002987.3

p.A23T

c.67G>A

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr16:57415084 G>A

NM_002987.3

p.R25Q

c.74G>A

Exome: 0.0% (AC=93, hom=1)Genome: 0.0% (AC=5, hom=0)7 overlapping SVs

1 paper

chr16:57415084 G>T

NM_002987.3

p.R25L

c.74G>T

Exome: 0.0% (AC=61, hom=0)Genome: 0.0% (AC=4, hom=0)7 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."