Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1L
Variant:p.G294S

ATXN1L

41 papers

Pfam Domains

ATXN-1_Caa 1–270UCSCAtaxin-1 like family
AXHaa 469–582UCSCAtaxin-1 and HBP1 module (AXH)

Gene Aliases

HGNC Name

ataxin 1 like

HGNC Alias Symbol

BOAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001137675.4
p.G294S
c.880G>A
Surrounding Variants
1 paper
NM_001137675.4
p.R328W
c.982C>T
1 paper
NM_001137675.4
p.P331L
c.992C>T
1 paper
NM_001137675.4
p.P256S
c.766C>T
1 paper
NM_001137675.4
p.T333I
c.998C>T
1 paper
NM_001137675.4
p.E336delFs
c.1008delG
1 paper
NM_001137675.4
p.A345V
c.1034C>T
1 paper
NM_001137675.4
p.L242F
c.726G>C
1 paper
NM_001137675.4
p.L242F
c.726G>T
1 paper
NM_001137675.4
p.Q347*
c.1039C>T
1 paper
NM_001137675.4
p.Y240fs
c.718_719fs
1 paper
NM_001137675.4
p.G239fs
c.715_716fs
2 papers
NM_001137675.4
p.R350C
c.1048C>T
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