Varaico: Literature-Extracted Genetic Variants

Gene:ATN1
Variant:p.P163_L164delFs

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
6 papers
NM_001940.4
p.P163_L164delFs
c.488_492del5
Surrounding Variants
1 paper
NM_001940.4
p.P162_P163del1
c.486_488delTCC
1 paper
NM_001940.4
p.P162R
c.485C>G
1 paper
NM_001940.4
p.P161Q
c.482C>A
1 paper
NM_001940.4
p.P163delFs
c.487delC
2 papers
NM_001940.4
p.P163_L164del1
c.488_490delCAC
2 papers
NM_001940.4
p.P163delFs
c.488_489delCA
2 papers
NM_001940.4
p.P163_L164delFs
c.488_491del4
1 paper
NM_001940.4
p.P163_F165del0
c.488_493del6
3 papers
NM_001940.4
p.P163_F165delFs
c.488_494del7
1 paper
NM_001940.4
p.L164del1
c.490_492delCTC
1 paper
NM_001940.4
p.P158H
c.473C>A
1 paper
NM_001940.4
p.P166T
c.496C>A
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