Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.G239V

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.G239V
c.716G>T
Surrounding Variants
1 paper
NM_001940.4
p.G238insFs
c.713dupG
1 paper
NM_001940.4
p.S242S
c.726A>T
1 paper
NM_001940.4
p.G234D
c.701G>A
1 paper
NM_001940.4
p.G230E
c.689G>A
1 paper
NM_001940.4
p.G249R
c.745G>A
1 paper
NM_001940.4
p.G250S
c.748G>A
1 paper
NM_001940.4
p.H253P
c.758A>C
1 paper
NM_001940.4
p.P255delFs
c.764delC
1 paper
NM_001940.4
p.P255fs
c.763_764fs
1 paper
NM_001940.4
p.T257P
c.769A>C
1 paper
NM_001940.4
p.I260V
c.778A>G
1 paper
NM_001940.4
p.G211E
c.632G>A
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