Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.P1000delFs

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.P1000delFs
c.2998delC
Surrounding Variants
1 paper
NM_007245.4
p.G999G
c.2997G>C
1 paper
NM_007245.4
p.P1000fs
c.2998_2999fs
1 paper
NM_007245.4
p.G998fs
c.2992_2993fs
2 papers
NM_007245.4
p.G999delFs
c.2997delG
2 papers
NM_007245.4
p.Q1002fs
c.3004_3005fs
1 paper
NM_007245.4
p.A1004delFs
c.3010delG
1 paper
NM_007245.4
p.A1004A
c.3012G>A
1 paper
NM_007245.4
p.V1005delFs
c.3015delG
1 paper
NM_007245.4
p.P1006delFs
c.3016delC
1 paper
NM_007245.4
p.P1006fs
c.3016_3017fs
2 papers
NM_007245.4
p.P1006L
c.3017C>T
2 papers
NM_007245.4
p.L1013V
c.3037C>G
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