Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.E89*

ATXN2L

114 papers

RefSeq Summary

This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerat...

Pfam Domains

SM-ATXaa 120–196UCSCAtaxin 2 SM domain
LsmADaa 264–332UCSCLsmAD domain
PAM2aa 660–675UCSCAtaxin-2 C-terminal region

Gene Aliases

HGNC Name

ataxin 2 like

HGNC Alias Symbols

A2lp; A2D

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007245.4
p.E89*
c.265G>T
Surrounding Variants
1 paper
NM_007245.4
p.E89K
c.265G>A
1 paper
NM_007245.4
p.E89delFs
c.266delA
2 papers
NM_007245.4
p.P84Q
c.251C>A
1 paper
NM_007245.4
p.A94T
c.280G>A
1 paper
NM_007245.4
p.A94V
c.281C>T
2 papers
NM_007245.4
p.G97D
c.290G>A
1 paper
NM_007245.4
p.S98C
c.292A>T
1 paper
NM_007245.4
p.G72R
c.214G>A
1 paper
NM_007245.4
p.R71P
c.212G>C
1 paper
NM_007245.4
p.G66R
c.196G>A
1 paper
NM_007245.4
p.G66W
c.196G>T
1 paper
NM_007245.4
p.A65T
c.193G>A
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