Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1L
Variant:p.A412V

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.A412V
c.1235C>T
Surrounding Variants
1 paper
NM_001137675.4
p.S427P
c.1279T>C
1 paper
NM_001137675.4
p.G428S
c.1282G>A
1 paper
NM_001137675.4
p.H368R
c.1103A>G
1 paper
NM_001137675.4
p.S462F
c.1385C>T
1 paper
NM_001137675.4
p.R356K
c.1067G>A
1 paper
NM_001137675.4
p.V351delFs
c.1053delG
1 paper
NM_001137675.4
p.V351fs
c.1051_1052fs
1 paper
NM_001137675.4
p.R350L
c.1049G>T
2 papers
NM_001137675.4
p.R350C
c.1048C>T
1 paper
NM_001137675.4
p.Q347*
c.1039C>T
1 paper
NM_001137675.4
p.A345V
c.1034C>T
1 paper
NM_001137675.4
p.R484R
c.1450C>A
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