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

1 paper

NM_001372574.1

p.S42G

c.124A>G

Surrounding Variants

3 papers

NM_001372574.1

p.G41D

c.122G>A

1 paper

NM_001372574.1

p.K38_G40ins1

c.112_120dup9

5 papers

NM_001372574.1

p.G41S

c.121G>A

2 papers

NM_001372574.1

p.P39_G40del2

c.115_119del6

1 paper

NM_001372574.1

p.P39Fs

c.117delinsCGGAGCGGGFs

1 paper

NM_001372574.1

p.G40_G41ins3

c.120_121ins9

2 papers

NM_001372574.1

p.R37_P39delins

c.109_117delinsCGGAGCGGG

1 paper

NM_001372574.1

p.P39S

c.115C>T

1 paper

NM_001372574.1

p.A46P

c.136G>C

1 paper

NM_001372574.1

p.K38E

c.112A>G

1 paper

NM_001372574.1

p.R37H

c.110G>A

1 paper

NM_001372574.1

p.V36V

c.108C>T