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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IRAG1

Variant:p.V517I

IRAG1

73 papers

RefSeq Summary

This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endopl...

Pfam Domains

MRVI1aa 318–904UCSCMRVI1 protein

Gene Aliases

HGNC Name

inositol 1,4,5-triphosphate receptor associated 1

HGNC Previous Symbol

MRVI1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:10609750 C>T

NM_130385.4

p.V517I

c.1549G>A

MRVI1

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

Surrounding Variants

1 paper

chr11:10609647 G>C

NM_130385.4

p.S524Splc

c.1571+81C>G

Exome: 0.0% (AC=65, hom=1)Genome: 0.0% (AC=27, hom=1)11 overlapping SVs

1 paper

chr11:10604441 AGTGTTCTCCTCT>A

NM_130385.4

p.T565_N568del4

c.1693_1703del12

MRVI1

exact variant not in gnomAD10 overlapping SVs

1 paper

chr11:10604405 C>T

NM_130385.4

p.T581T

c.1743G>A

MRVI1

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr11:10603161 G>A

NM_130385.4

p.R612C

c.1834C>T

MRVI1

Exome: 0.0% (AC=84, hom=1)Genome: 0.0% (AC=5, hom=0)10 overlapping SVs

1 paper

chr11:10600993 C>G

NM_130385.4

p.E648Q

c.1942G>C

MRVI1

exact variant not in gnomAD10 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."