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.S60delFs

c.178_179delGA

Surrounding Variants

1 paper

NM_001372574.1

p.S58_S60del0

c.174_179del6

1 paper

NM_001372574.1

p.S60_S61ins2

c.180_181ins6

1 paper

NM_001372574.1

p.S60F

c.179C>T

1 paper

NM_001372574.1

p.S60_S61delFs

c.180_181delAG

1 paper

NM_001372574.1

p.S60_S61delFs

c.179_183del5

1 paper

NM_001372574.1

p.V59L

c.175G>C

1 paper

NM_001372574.1

p.P54_S58del5

c.160_173del15

2 papers

NM_001372574.1

p.S57del1

c.169_170delGGA

1 paper

NM_001372574.1

p.S62S

c.186C>T

1 paper

NM_001372574.1

p.S61_S62ins0

c.181_186dup6

8 papers

NM_001372574.1

p.S63delFs

c.188_189delCG

1 paper

NM_001372574.1

p.S63del1

c.187_189delCGA