Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.D116N

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.D116N
c.346G>A
Surrounding Variants
1 paper
NM_001940.4
p.R111Q
c.332G>A
2 papers
NM_001940.4
p.D109N
c.325G>A
1 paper
NM_001940.4
p.D106V
c.317A>T
1 paper
NM_001940.4
p.S103S
c.309C>T
1 paper
NM_001940.4
p.R129Q
c.386G>A
3 papers
NM_001940.4
p.P102L
c.305C>T
1 paper
NM_001940.4
p.P133_S134insFs
c.398_401dup4
1 paper
NM_001940.4
p.P97R
c.290C>G
1 paper
NM_001940.4
p.I135F
c.403A>T
1 paper
NM_001940.4
p.I135fs
c.403_404fs
1 paper
NM_001940.4
p.Y136Y
c.408C>T
1 paper
NM_001940.4
p.E95Q
c.283G>C
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