Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.G139R

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.G139R
c.415G>C
Surrounding Variants
1 paper
NM_001940.4
p.G139R
c.415G>A
1 paper
NM_001940.4
p.Y136Y
c.408C>T
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.D144delFs
c.430delG
1 paper
NM_001940.4
p.P133_S134insFs
c.398_401dup4
1 paper
NM_001940.4
p.R129Q
c.386G>A
1 paper
NM_001940.4
p.G150D
c.449G>A
1 paper
NM_001940.4
p.Q153insFs
c.458dupA
1 paper
NM_001940.4
p.P158H
c.473C>A
1 paper
NM_001940.4
p.P161Q
c.482C>A
1 paper
NM_001940.4
p.P162_P163del1
c.486_488delTCC
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