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

4 papers

NM_001372574.1

p.N248S

c.743A>G

Surrounding Variants

1 paper

NM_001372574.1

p.Y249F

c.746A>T

1 paper

NM_001372574.1

p.Y244_Y249del6

c.730_746del18

1 paper

NM_001372574.1

p.Y244delFs

c.732delA

1 paper

NM_001372574.1

p.Y244fs

c.730_731fs

1 paper

NM_001372574.1

p.S253_T254delFs

c.759_760delTA

1 paper

NM_001372574.1

p.N239K

c.717T>A

1 paper

NM_001310121.1

p.Y144_D151ins2

c.432_452dup21

1 paper

NM_001372574.1

p.S260F

c.779C>T

1 paper

NM_001372574.1

p.G235E

c.704G>A

1 paper

NM_001372574.1

p.Y262C

c.785A>G

2 papers

NM_001372574.1

p.R277Q

c.830G>A

1 paper

NM_001310123.1

p.E144_R151ins2

c.432_452dup21