Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.Q502del1

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
Selected Variant
6 papers
NM_001940.4
p.Q502del1
c.1504_1505delCAG
Surrounding Variants
1 paper
NM_001940.4
p.Q487_Q488insFs
c.1461_1462ins4
1 paper
NM_001940.4
p.Q487_Q488insFs
c.1461_1462insC
13 papers
NM_001940.4
p.Q494_Q495ins1
c.1482_1483insCAG
2 papers
NM_001940.4
p.Q487_Q488insFs
c.1461_1462ins4
9 papers
NM_001940.4
p.Q488_Q489ins2
c.1464_1465ins6
5 papers
NM_001940.4
p.Q500_Q502ins1
c.1498_1506dup9
5 papers
NM_001940.4
p.Q499_H503ins1
c.1497_1508dup12
1 paper
NM_001940.4
p.Q487_Q488ins5
c.1461_1462ins15
4 papers
NM_001940.4
p.H503ins6
c.1508_1509ins18
1 paper
NM_001940.4
p.Q496_H503ins2
c.1488_1508dup21
1 paper
NM_001940.4
p.Q487_Q488insFs
c.1461_1462ins7
1 paper
NM_001940.4
p.Q487_Q488insFs
c.1461_1462ins10
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