Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1L
Variant:p.T509M

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.T509M
c.1526C>T
Surrounding Variants
1 paper
NM_001137675.4
p.G501R
c.1501G>A
1 paper
NM_001137675.4
p.G501R
c.1501G>C
1 paper
NM_001137675.4
p.E498K
c.1492G>A
1 paper
NM_001137675.4
p.A497V
c.1490C>T
1 paper
NM_001137675.4
p.R484R
c.1450C>A
1 paper
NM_001137675.4
p.V539_P540insFs
c.1617_1618insC
1 paper
NM_001137675.4
p.E542fs
c.1624_1625fs
1 paper
NM_001137675.4
p.S462F
c.1385C>T
1 paper
NM_001137675.4
p.T561A
c.1681A>G
1 paper
NM_001137675.4
p.L563F
c.1687C>T
1 paper
NM_001137675.4
p.S565F
c.1694C>T
1 paper
NM_001137675.4
p.H569R
c.1706A>G
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