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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL1A

IL1A

423 papers

RefSeq Summary

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoies...

Pfam Domains

IL1_propepaa 1–109UCSCInterleukin-1 propeptide

IL1aa 155–266UCSCInterleukin-1 / 18

Gene Aliases

HGNC Name

interleukin 1 alpha

HGNC Alias Symbols

IL-1A; IL1-ALPHA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 98 variants

61 papers

chr2:112779646 C>A

NM_000575.5

p.A114S

c.340G>T

Exome: 29.0% (AC=421059, hom=62644)Genome: 25.7% (AC=39041, hom=5330)145 overlapping SVs

14 papers

chr2:112781685 C>T

NM_000575.5

p.V80I

c.238G>A

IL1_propep

Exome: 0.0% (AC=6, hom=0)Genome: n/a145 overlapping SVs

11 papers

chr2:112778091 A>G

NM_000575.5

p.Y171H

c.511T>C

IL1

Exome: 0.0% (AC=1, hom=0)Genome: n/a145 overlapping SVs

9 papers

chr2:112783750 C>A

NM_000575.5

p.M7I

c.21G>T

IL1_propep

exact variant not in gnomAD145 overlapping SVs

6 papers

chr2:112783740 G>A

NM_000575.5

p.L11L

c.31C>T

IL1_propep

Exome: 0.0% (AC=2, hom=0)Genome: n/a145 overlapping SVs

5 papers

chr2:112781615 T>C

NM_000575.5

p.D103G

c.308A>G

IL1_propep

Exome: 0.0% (AC=1, hom=0)Genome: n/a145 overlapping SVs

5 papers

chr2:112778093 G>A

NM_000575.5

p.A170V

c.509C>T

IL1

exact variant not in gnomAD145 overlapping SVs

4 papers

chr2:112781669 C>T

NM_000575.5

p.R85Q

c.254G>A

IL1_propep

Exome: 0.2% (AC=3541, hom=7)Genome: 0.2% (AC=233, hom=0)145 overlapping SVs

3 papers

chr2:112781786 C>G

NM_000575.5

p.G46A

c.137G>C

IL1_propep

Exome: 0.1% (AC=763, hom=4)Genome: 0.1% (AC=87, hom=0)145 overlapping SVs

2 papers

chr2:112783731 A>T

NM_000575.5

p.C14S

c.40T>A

IL1_propep

exact variant not in gnomAD145 overlapping SVs

2 papers

chr2:112783730 C>G

NM_000575.5

p.C14S

c.41G>C

IL1_propep

Exome: 0.0% (AC=105, hom=0)Genome: 0.0% (AC=13, hom=0)145 overlapping SVs

2 papers

chr2:112781781 T>C

NM_000575.5

p.M48V

c.142A>G

IL1_propep

Exome: 0.0% (AC=725, hom=10)Genome: 0.0% (AC=52, hom=1)145 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."