Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.Q429R

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.Q429R
c.1286A>G
Surrounding Variants
1 paper
NM_001940.4
p.S434insFs
c.1302dupC
1 paper
NM_001940.4
p.S434C
c.1301C>G
1 paper
NM_001940.4
p.L418L
c.1254C>G
1 paper
NM_001940.4
p.P414L
c.1241C>T
1 paper
NM_001940.4
p.P447P
c.1341C>T
1 paper
NM_001940.4
p.H410P
c.1229A>C
1 paper
NM_001940.4
p.L451V
c.1351C>G
1 paper
NM_001940.4
p.F462L
c.1384T>C
1 paper
NM_001940.4
p.F462L
c.1386C>A
1 paper
NM_001940.4
p.F462L
c.1386C>G
1 paper
NM_001940.4
p.P464P
c.1392C>T
1 paper
NM_001940.4
p.S470F
c.1409C>T
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