Varaico: Literature-Extracted Genetic Variants

ATXN2

446 papers

RefSeq Summary

This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitiv...

Pfam Domains

SM-ATXaa 105–181UCSCAtaxin 2 SM domain

LsmADaa 249–316UCSCLsmAD domain

SM-ATXaa 265–341UCSCAtaxin 2 SM domain

LsmADaa 409–476UCSCLsmAD domain

PAM2aa 749–766UCSCAtaxin-2 C-terminal region

PAM2aa 909–926UCSCAtaxin-2 C-terminal region

Gene Aliases

HGNC Name

ataxin 2

HGNC Previous Symbols

SCA2; TNRC13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001372574.1

p.R321C

c.961C>T

Surrounding Variants

1 paper

NM_001372574.1

p.R321H

c.962G>A

3 papers

NM_001372574.1

p.E322K

c.964G>A

1 paper

NM_001372574.1

p.G323E

c.968G>A

1 paper

NM_001372574.1

p.N327I

c.980A>T

1 paper

NM_001372574.1

p.R329insFs

c.985_986insAC

1 paper

NM_001372574.1

p.E308insFs

c.923dupA

1 paper

NM_001372574.1

p.E307*

c.919G>T

1 paper

NM_001372574.1

p.R297R

c.891A>T

1 paper

NM_001372574.1

p.A292T

c.874G>A

1 paper

NM_001372574.1

p.E287K

c.859G>A

1 paper

NM_001310123.1

p.E144_R151ins2

c.432_452dup21

2 papers

NM_001372574.1

p.R277Q

c.830G>A