Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.H483Q

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
1 paper
NM_001940.4
p.H483Q
c.1449C>A
Surrounding Variants
1 paper
NM_001940.4
p.H483Q
c.1449C>G
1 paper
NM_001940.4
p.Q487_Q489del0
c.1461_1466del6
1 paper
NM_001940.4
p.Q484_Q495del0
c.1450_1485del36
1 paper
NM_001940.4
p.Q485_Q488del0
c.1455_1463del9
1 paper
NM_001940.4
p.Q486_Q487ins3
c.1458_1459ins9
1 paper
NM_001940.4
p.Q485H
c.1455A>C
1 paper
NM_001940.4
p.Q485Q
c.1455A>G
1 paper
NM_001940.4
p.Q485H
c.1455A>T
1 paper
NM_001940.4
p.Q486_Q488del3
c.1456_1463del9
1 paper
NM_001940.4
p.Q487_Q491del0
c.1461_1472del12
1 paper
NM_001940.4
p.Q487del1
c.1459_1461delCAA
1 paper
NM_001940.4
p.Q487fs
c.1459_1460fs
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