Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.A384V

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.A384V
c.1151C>T
Surrounding Variants
1 paper
NM_001940.4
p.M371fs
c.1111_1112fs
1 paper
NM_001940.4
p.P370delFs
c.1110delC
1 paper
NM_001940.4
p.L359V
c.1075C>G
1 paper
NM_001940.4
p.H410P
c.1229A>C
1 paper
NM_001940.4
p.P414L
c.1241C>T
1 paper
NM_001940.4
p.A353T
c.1057G>A
1 paper
NM_001940.4
p.L418L
c.1254C>G
1 paper
NM_001940.4
p.K348delFs
c.1044delG
1 paper
NM_001940.4
p.P344L
c.1031C>T
1 paper
NM_001940.4
p.G341E
c.1022G>A
1 paper
NM_001940.4
p.Q429R
c.1286A>G
1 paper
NM_001940.4
p.Q337R
c.1010A>G
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