Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q480K

ATXN1

422 papers

RefSeq Summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clini...

Pfam Domains

ATXN-1_Caa 1–205UCSCAtaxin-1 like family
ATXN-1_Caa 195–558UCSCAtaxin-1 like family
AXHaa 574–687UCSCAtaxin-1 and HBP1 module (AXH)

Gene Aliases

HGNC Name

ataxin 1

HGNC Previous Symbol

SCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128164.2
p.Q480K
c.1438C>A
Surrounding Variants
1 paper
NM_001128164.2
p.V483L
c.1447G>T
1 paper
NM_001128164.2
p.V483L
c.1447G>C
1 paper
NM_001128164.2
p.T473delFs
c.1418_1419delGG
1 paper
NM_001128164.2
p.A471V
c.1412C>T
1 paper
NM_001128164.2
p.A471S
c.1411G>T
2 papers
NM_001128164.2
p.Q470R
c.1409A>G
1 paper
NM_001128164.2
p.L490V
c.1468C>G
1 paper
NM_001128164.2
p.S466R
c.1398C>A
1 paper
NM_001128164.2
p.G495D
c.1484G>A
1 paper
NM_001128164.2
p.V461I
c.1381G>A
1 paper
NM_001128164.2
p.P459S
c.1375C>T
1 paper
NM_001128164.2
p.A501V
c.1502C>T
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