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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL36A

IL36A

29 papers

RefSeq Summary

The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demons...

Pfam Domains

IL1aa 39–154UCSCInterleukin-1 / 18

Gene Aliases

HGNC Name

interleukin 36 alpha

HGNC Previous Symbol

IL1F6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 21 variants

7 papers

chr2:113005998 A>G

NM_014440.3

p.Q12R

c.35A>G

Exome: 73.5% (AC=1073403, hom=398535)Genome: 75.4% (AC=114737, hom=43664)146 overlapping SVs

3 papers

chr2:113008010 A>T

NM_014440.3

p.N148I

c.443A>T

IL1

Exome: 2.3% (AC=34095, hom=596)Genome: 1.6% (AC=2371, hom=37)146 overlapping SVs

2 papers

chr2:113005992 C>T

NM_014440.3

p.P10L

c.29C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)146 overlapping SVs

2 papers

chr2:113006617 A>C

NM_014440.3

p.S48S

c.144A>C

IL1

Exome: 1.0% (AC=14053, hom=0)Genome: 0.0% (AC=25, hom=0)146 overlapping SVs

1 paper

chr2:113005886 A>C

NM_014440.3

p.A4Splc

c.10+5A>C

Exome: 33.5% (AC=489679, hom=85503)Genome: 27.6% (AC=41929, hom=7415)146 overlapping SVs

1 paper

chr2:113005978 G>C

NM_014440.3

p.L5F

c.15G>C

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=9, hom=0)146 overlapping SVs

1 paper

chr2:113005978 G>T

NM_014440.3

p.L5F

c.15G>T

exact variant not in gnomAD146 overlapping SVs

1 paper

chr2:113005980 A>C

NM_014440.3

p.K6T

c.17A>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a146 overlapping SVs

1 paper

chr2:113005991 C>T

NM_014440.3

p.P10S

c.28C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)146 overlapping SVs

1 paper

chr2:113006000 G>T

NM_014440.3

p.G13W

c.37G>T

exact variant not in gnomAD146 overlapping SVs

1 paper

chr2:113006029 G>C

NM_014440.3

p.V22V

c.66G>C

exact variant not in gnomAD146 overlapping SVs

1 paper

chr2:113006051 C>T

NM_014440.3

p.L30F

c.88C>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)146 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."