Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.L329L

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.L329L
c.987G>C
Surrounding Variants
1 paper
NM_001940.4
p.S331F
c.992C>T
1 paper
NM_001940.4
p.Q337R
c.1010A>G
1 paper
NM_001940.4
p.G321V
c.962G>T
1 paper
NM_001940.4
p.G341E
c.1022G>A
1 paper
NM_001940.4
p.P344L
c.1031C>T
1 paper
NM_001940.4
p.A313E
c.938C>A
1 paper
NM_001940.4
p.K348delFs
c.1044delG
1 paper
NM_001940.4
p.L307R
c.920T>G
1 paper
NM_001940.4
p.A306V
c.917C>T
1 paper
NM_001940.4
p.A353T
c.1057G>A
1 paper
NM_001940.4
p.P304L
c.911C>T
1 paper
NM_001940.4
p.L359V
c.1075C>G
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