Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1L

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
1–12 of 50 variants
2 papers
NM_001137675.4
p.R350C
c.1048C>T
1 paper
NM_001137675.4
p.R7K
c.20G>A
1 paper
NM_001137675.4
p.P20L
c.59C>T
1 paper
NM_001137675.4
p.P20P
c.60C>T
1 paper
NM_001137675.4
p.S62N
c.185G>A
1 paper
NM_001137675.4
p.G121S
c.361G>A
1 paper
NM_001137675.4
p.Q131E
c.391C>G
1 paper
NM_001137675.4
p.S136*
c.407C>A
1 paper
NM_001137675.4
p.P158L
c.473C>T
1 paper
NM_001137675.4
p.A164T
c.490G>A
1 paper
NM_001137675.4
p.P192S
c.574C>T
1 paper
NM_001137675.4
p.H196Y
c.586C>T
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