Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.V198I

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
3 papers
NM_007245.4
p.V198I
c.592G>A
Surrounding Variants
1 paper
NM_007245.4
p.D199E
c.597C>A
1 paper
NM_007245.4
p.D199E
c.597C>G
1 paper
NM_007245.4
p.A203V
c.608C>T
1 paper
NM_007245.4
p.G173delFs
c.517delG
1 paper
NM_007245.4
p.A171S
c.511G>T
1 paper
NM_007245.4
p.A162D
c.485C>A
1 paper
NM_007245.4
p.E157Q
c.469G>C
1 paper
NM_007245.4
p.K155_F156Splc
c.466-46T>C
1 paper
NM_007245.4
p.V219L
c.655G>C
1 paper
NM_007245.4
p.V219L
c.655G>T
1 paper
NM_007245.4
p.L152P
c.455T>C
1 paper
NM_007245.4
p.T151M
c.452C>T
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