Varaico: Literature-Extracted Genetic Variants

Gene:ATXN10
Variant:p.D335Splc

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
2 papers
NM_013236.4
p.D335Splc
c.1004-3T>G
Surrounding Variants
1 paper
NM_013236.4
p.D335Splc
c.1004-2A>T
1 paper
NM_013236.4
p.L336F
c.1006C>T
1 paper
NM_013236.4
p.R338G
c.1012C>G
1 paper
NM_013236.4
p.I340T
c.1019T>C
2 papers
NM_013236.4
p.C356C
c.1068C>T
1 paper
NM_013236.4
p.S372F
c.1115C>T
1 paper
NM_013236.4
p.H373D
c.1117C>G
1 paper
NM_013236.4
p.L329F
c.987G>C
1 paper
NM_013236.4
p.L329F
c.987G>T
1 paper
NM_013236.4
p.E312K
c.934G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."