Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.G320V

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.G320V
c.959G>T
Surrounding Variants
1 paper
NM_007245.4
p.R321H
c.962G>A
1 paper
NM_007245.4
p.E325delFs
c.975delG
1 paper
NM_007245.4
p.I313I
c.939C>T
1 paper
NM_007245.4
p.R310C
c.928C>T
1 paper
NM_007245.4
p.Q331K
c.991C>A
1 paper
NM_007245.4
p.Y309C
c.926A>G
1 paper
NM_007245.4
p.S335*
c.1004C>A
1 paper
NM_007245.4
p.S335*
c.1004C>G
1 paper
NM_007245.4
p.R337W
c.1009C>T
1 paper
NM_007245.4
p.R295C
c.883C>T
1 paper
NM_007245.4
p.R290C
c.868C>T
2 papers
NM_007245.4
p.K283N
c.849G>C
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