Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.Q494Q

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
4 papers
NM_001940.4
p.Q494Q
c.1482G>A
Surrounding Variants
1 paper
NM_001940.4
p.Q493Q
c.1479G>A
1 paper
NM_001940.4
p.Q495Q
c.1485G>A
2 papers
NM_001940.4
p.Q492Q
c.1476G>A
2 papers
NM_001940.4
p.Q496H
c.1488G>C
2 papers
NM_001940.4
p.Q496H
c.1488G>T
1 paper
NM_001940.4
p.Q492ins4
c.1474_1475ins12
1 paper
NM_001940.4
p.Q491Q
c.1473G>A
1 paper
NM_001940.4
p.Q498*
c.1492C>T
2 papers
NM_001940.4
p.Q490Q
c.1470G>A
1 paper
NM_001940.4
p.Q490H
c.1470G>C
1 paper
NM_001940.4
p.Q490H
c.1470G>T
2 papers
NM_001940.4
p.Q490delFs
c.1470delG
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