Varaico: Literature-Extracted Genetic Variants

Gene:ATXN10
Variant:p.R103G

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013236.4
p.R103G
c.307A>G
Surrounding Variants
1 paper
NM_013236.4
p.N90S
c.269A>G
1 paper
NM_013236.4
p.R89C
c.265C>T
1 paper
NM_013236.4
p.T82A
c.244A>G
1 paper
NM_013236.4
p.R66K
c.197G>A
1 paper
NM_013236.4
p.L51V
c.151C>G
1 paper
NM_013236.4
p.Q48R
c.143A>G
1 paper
NM_013236.4
p.I46I
c.138C>A
1 paper
NM_013236.4
p.T107T
c.321G>A
1 paper
NM_013236.4
p.R39Splc
c.117-5279G>A
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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."