Varaico: Literature-Extracted Genetic Variants

Gene:ATN1

ATN1

360 papers

RefSeq Summary

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the ...

Pfam Domains

Atrophin-1aa 1–156UCSCAtrophin-1 family
Atrophin-1aa 398–1189UCSCAtrophin-1 family

Gene Aliases

HGNC Name

atrophin 1

HGNC Previous Symbols

D12S755E; DRPLA

Papers
RefSeq ID
Protein change
DNA change
1–12 of 294 variants
16 papers
NM_001940.4
p.Q498_H503del0
c.1494_1508del15
13 papers
NM_001940.4
p.Q494_Q495ins1
c.1482_1483insCAG
11 papers
NM_001940.4
p.Q496_H503del0
c.1488_1508del21
10 papers
NM_001940.4
p.Q500_H503del0
c.1500_1508del9
9 papers
NM_001940.4
p.Q488_Q489ins2
c.1464_1465ins6
6 papers
NM_001940.4
p.P163_L164delFs
c.488_492del5
6 papers
NM_001940.4
p.Q502del1
c.1504_1505delCAG
5 papers
NM_001940.4
p.Q500_Q502ins1
c.1498_1506dup9
5 papers
NM_001940.4
p.Q499_H503ins1
c.1497_1508dup12
5 papers
NM_001940.4
p.Q499_H503del0
c.1497_1508del12
4 papers
NM_001940.4
p.H503ins6
c.1508_1509ins18
4 papers
NM_001940.4
p.Q494Q
c.1482G>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."