Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.R382C

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
5 papers
NM_007245.4
p.R382C
c.1144C>T
Surrounding Variants
1 paper
NM_007245.4
p.D388Y
c.1162G>T
1 paper
NM_007245.4
p.R370R
c.1110G>T
1 paper
NM_007245.4
p.R370Q
c.1109G>A
1 paper
NM_007245.4
p.R365G
c.1093C>G
2 papers
NM_007245.4
p.R365*
c.1093C>T
1 paper
NM_007245.4
p.G362V
c.1085G>T
1 paper
NM_007245.4
p.R361Q
c.1082G>A
1 paper
NM_007245.4
p.Y349C
c.1046A>G
1 paper
NM_007245.4
p.G347R
c.1039G>A
1 paper
NM_007245.4
p.E346K
c.1036G>A
1 paper
NM_007245.4
p.S406C
c.1217C>G
1 paper
NM_007245.4
p.R407C
c.1219C>T
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