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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL1B

Variant:p.M1R

IL1B

806 papers

RefSeq Summary

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active ...

Pfam Domains

IL1_propepaa 1–103UCSCInterleukin-1 propeptide

IL1aa 147–264UCSCInterleukin-1 / 18

Gene Aliases

HGNC Name

interleukin 1 beta

HGNC Alias Symbols

IL1F2; IL-1B; IL1-BETA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:112836228 A>C

NM_000576.3

p.M1R

c.2T>G

IL1_propep

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

Surrounding Variants

1 paper

chr2:112836228 A>G

NM_000576.3

p.M1T

c.2T>C

IL1_propep

Exome: 0.0% (AC=170, hom=1)Genome: 0.0% (AC=7, hom=0)145 overlapping SVs

1 paper

chr2:112836228 A>T

NM_000576.3

p.M1K

c.2T>A

IL1_propep

Exome: 0.0% (AC=4, hom=0)Genome: n/a145 overlapping SVs

1 paper

chr2:112836227 C>T

NM_000576.3

p.M1I

c.3G>A

IL1_propep

exact variant not in gnomAD145 overlapping SVs

2 papers

chr2:112836229 T>C

NM_000576.3

p.M1V

c.1A>G

IL1_propep

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=4, hom=0)145 overlapping SVs

1 paper

chr2:112836220 C>A

NM_000576.3

p.V4L

c.10G>T

IL1_propep

exact variant not in gnomAD145 overlapping SVs

1 paper

chr2:112836220 C>G

NM_000576.3

p.V4L

c.10G>C

IL1_propep

exact variant not in gnomAD145 overlapping SVs

1 paper

chr2:112836220 C>T

NM_000576.3

p.V4I

c.10G>A

IL1_propep

Exome: 0.0% (AC=16, hom=0)Genome: n/a145 overlapping SVs

1 paper

chr2:112836219 A>G

NM_000576.3

p.V4A

c.11T>C

IL1_propep

exact variant not in gnomAD145 overlapping SVs

1 paper

chr2:112836218 TA>T

NM_000576.3

p.V4delFs

c.11delA

IL1_propep

exact variant not in gnomAD145 overlapping SVs

3 papers

chr2:112836217 G>T

NM_000576.3

p.P5T

c.13C>A

IL1_propep

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=5, hom=0)145 overlapping SVs

7 papers

chr2:112836216 G>A

NM_000576.3

p.P5L

c.14C>T

IL1_propep

exact variant not in gnomAD145 overlapping SVs

2 papers

chr2:112836213 T>A

NM_000576.3

p.E6V

c.17A>T

IL1_propep

exact variant not in gnomAD145 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."