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.K151E

c.451A>G

Surrounding Variants

1 paper

NM_001372574.1

p.V144_K151ins2

c.432_452dup21

1 paper

NM_001372574.1

p.S155T

c.463T>A

1 paper

NM_001372574.1

p.L145F

c.433C>T

1 paper

NM_001372574.1

p.V144delFs

c.430delC

1 paper

NM_001372574.1

p.M165V

c.493A>G

4 papers

NM_001372574.1

p.C172S

c.515G>C

1 paper

NM_001372574.1

p.S173_D174delFs

c.519_520delCT

1 paper

NM_001372574.1

p.D174_F175delFs

c.522_523delAG

1 paper

NM_001372574.1

p.V178_Q179ins4

c.534_535ins12

1 paper

NM_001372574.1

p.Q179L

c.536A>T

2 papers

NM_001372574.1

p.V178_Q179del1

c.534_536delTGT

1 paper

NM_001372574.1

p.D174_Q179del0

c.522_536del15