Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.L428F

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.L428F
c.1282C>T
Surrounding Variants
1 paper
NM_001128164.2
p.A427T
c.1279G>A
1 paper
NM_001128164.2
p.Y426Y
c.1278C>T
1 paper
NM_001128164.2
p.S429*
c.1286C>G
1 paper
NM_001128164.2
p.S429*
c.1286C>A
1 paper
NM_001128164.2
p.R424W
c.1270C>T
1 paper
NM_001128164.2
p.R424G
c.1270C>G
1 paper
NM_001128164.2
p.T432T
c.1296G>A
1 paper
NM_001128164.2
p.P421L
c.1262C>T
1 paper
NM_001128164.2
p.T436T
c.1308C>G
1 paper
NM_001128164.2
p.L418V
c.1252T>G
1 paper
NM_001128164.2
p.E442V
c.1325A>T
1 paper
NM_001128164.2
p.D412E
c.1236C>A
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