Varaico: Literature-Extracted Genetic Variants

Gene:ATXN2L
Variant:p.K411N

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.K411N
c.1233G>T
Surrounding Variants
1 paper
NM_007245.4
p.K411N
c.1233G>C
2 papers
NM_007245.4
p.A412V
c.1235C>T
1 paper
NM_007245.4
p.S409P
c.1225T>C
1 paper
NM_007245.4
p.R407C
c.1219C>T
1 paper
NM_007245.4
p.S406C
c.1217C>G
1 paper
NM_007245.4
p.K420R
c.1259A>G
1 paper
NM_007245.4
p.T421S
c.1261A>T
1 paper
NM_007245.4
p.T421S
c.1262C>G
1 paper
NM_007245.4
p.L422_S423ins7
c.1264_1268ins21
1 paper
NM_007245.4
p.S426I
c.1277G>T
2 papers
NM_007245.4
p.R428K
c.1283G>A
1 paper
NM_007245.4
p.E432G
c.1295A>G
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