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.D100G

c.299A>G

Surrounding Variants

1 paper

NM_001372574.1

p.A104ins6

c.311_312ins18

1 paper

NM_001372574.1

p.H110Y

c.328C>T

1 paper

NM_001372574.1

p.H110N

c.328C>A

1 paper

NM_001372574.1

p.H110Q

c.330T>G

1 paper

NM_001372574.1

p.V116I

c.346G>A

1 paper

NM_001372574.1

p.S118F

c.353C>T

1 paper

NM_001372574.1

p.C120_E121ins9

c.358_362ins27

1 paper

NM_001372574.1

p.N126I

c.377A>T

1 paper

NM_001372574.1

p.G127R

c.379G>C

1 paper

NM_001372574.1

p.G127R

c.379G>A

1 paper

NM_001372574.1

p.Y130C

c.389A>G

1 paper

NM_001372574.1

p.Y130*

c.390T>G