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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATXN10

Variant:p.I275T

ATXN10

86 papers

RefSeq Summary

This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase casc...

Pfam Domains

Atx10homo_assocaa 370–467UCSCSpinocerebellar ataxia type 10 protein domain

Gene Aliases

HGNC Name

ataxin 10

HGNC Previous Symbol

SCA10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr22:45729520 T>C

NM_013236.4

p.I275T

c.824T>C

Exome: 0.0% (AC=300, hom=0)Genome: 0.0% (AC=20, hom=0)5 overlapping SVs

Surrounding Variants

1 paper

chr22:45729600 G>T

NM_013236.4

p.E298_E299Splc

c.894+10G>T

Exome: 0.6% (AC=8892, hom=34)Genome: 0.4% (AC=673, hom=4)5 overlapping SVs

1 paper

chr22:45729416 G>A

NM_013236.4

p.R243Splc

c.729-9G>A

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

1 paper

chr22:45738770 G>A

NM_013236.4

p.E312K

c.934G>A

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=1, hom=0)5 overlapping SVs

1 paper

chr22:45738823 G>C

NM_013236.4

p.L329F

c.987G>C

exact variant not in gnomAD5 overlapping SVs

1 paper

chr22:45738823 G>T

NM_013236.4

p.L329F

c.987G>T

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=5, hom=0)5 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."