Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.P286A

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.P286A
c.856C>G
Surrounding Variants
1 paper
NM_001940.4
p.S287F
c.860C>T
1 paper
NM_001940.4
p.G282C
c.844G>T
1 paper
NM_001940.4
p.G281C
c.841G>T
1 paper
NM_001940.4
p.T277N
c.830C>A
1 paper
NM_001940.4
p.P275L
c.824C>T
1 paper
NM_001940.4
p.P275S
c.823C>T
1 paper
NM_001940.4
p.P275_P276delFs
c.825_826delGC
1 paper
NM_001940.4
p.P299S
c.895C>T
1 paper
NM_001940.4
p.P271S
c.811C>T
1 paper
NM_001940.4
p.G269S
c.805G>A
1 paper
NM_001940.4
p.S268G
c.802A>G
1 paper
NM_001940.4
p.P304L
c.911C>T
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