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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCL8

CCL8

52 papers

RefSeq Summary

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory proc...

Pfam Domains

IL8aa 32–90UCSCSmall cytokines (intecrine/chemokine), interleukin-8 like

Gene Aliases

HGNC Name

C-C motif chemokine ligand 8

HGNC Previous Symbol

SCYA8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 64 variants

7 papers

chr17:34320812 A>C

NM_005623.3

p.K69Q

c.205A>C

IL8

Exome: 17.4% (AC=252455, hom=25106)Genome: 15.1% (AC=22980, hom=2210)13 overlapping SVs

4 papers

chr17:34320872 C>A

NM_005623.3

p.H89N

c.265C>A

IL8

Exome: 0.5% (AC=6678, hom=36)Genome: 0.3% (AC=531, hom=1)13 overlapping SVs

2 papers

chr17:34319542 C>T

NM_005623.3

p.A14V

c.41C>T

Exome: 0.1% (AC=982, hom=10)Genome: 0.7% (AC=1057, hom=12)15 overlapping SVs

2 papers

chr17:34319556 C>T

NM_005623.3

p.P19S

c.55C>T

exact variant not in gnomAD15 overlapping SVs

2 papers

chr17:34320280 A>T

NM_005623.3

p.I30F

c.88A>T

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

2 papers

chr17:34320338 A>T

NM_005623.3

p.E49V

c.146A>T

IL8

Exome: 1.9% (AC=27817, hom=324)Genome: 1.5% (AC=2259, hom=25)13 overlapping SVs

1 paper

chr17:34319506 A>T

NM_005623.3

p.K2M

c.5A>T

exact variant not in gnomAD15 overlapping SVs

1 paper

chr17:34319508 G>T

NM_005623.3

p.V3F

c.7G>T

Exome: 0.0% (AC=7, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:34319511 T>A

NM_005623.3

p.S4T

c.10T>A

exact variant not in gnomAD15 overlapping SVs

1 paper

chr17:34319515 C>A

NM_005623.3

p.A5E

c.14C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr17:34319518 C>T

NM_005623.3

p.A6V

c.17C>T

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=4, hom=0)15 overlapping SVs

1 paper

chr17:34319529 C>G

NM_005623.3

p.L10V

c.28C>G

exact variant not in gnomAD15 overlapping SVs

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