Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L

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
1–12 of 179 variants
5 papers
NM_007245.4
p.R382C
c.1144C>T
3 papers
NM_007245.4
p.V198I
c.592G>A
3 papers
NM_007245.4
p.H984P
c.2951A>C
2 papers
NM_007245.4
p.P84Q
c.251C>A
2 papers
NM_007245.4
p.G97D
c.290G>A
2 papers
NM_007245.4
p.Y277F
c.830A>T
2 papers
NM_007245.4
p.K283N
c.849G>C
2 papers
NM_007245.4
p.K283N
c.849G>T
2 papers
NM_007245.4
p.R365*
c.1093C>T
2 papers
NM_007245.4
p.A412V
c.1235C>T
2 papers
NM_007245.4
p.R428K
c.1283G>A
2 papers
NM_007245.4
p.V441M
c.1321G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."