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.A51T

c.151G>A

Surrounding Variants

1 paper

NM_001372574.1

p.A51A

c.153G>C

1 paper

NM_001372574.1

p.P52L

c.155C>T

1 paper

NM_001372574.1

p.P52P

c.156T>A

1 paper

NM_001372574.1

p.A49G

c.146C>G

1 paper

NM_001372574.1

p.A49T

c.145G>A

1 paper

NM_001372574.1

p.P48P

c.144C>G

1 paper

NM_001372574.1

p.A34_S47delFs

c.102_139del38

1 paper

NM_001372574.1

p.A46P

c.136G>C

1 paper

NM_001372574.1

p.S56insFs

c.168dupG

2 papers

NM_001372574.1

p.S57del1

c.169_170delGGA

1 paper

NM_001372574.1

p.V59L

c.175G>C

1 paper

NM_001372574.1

p.P54_S58del5

c.160_173del15