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

2 papers

NM_001372574.1

p.V178_Q179del1

c.534_536delTGT

Surrounding Variants

1 paper

NM_001372574.1

p.D174_Q179del0

c.522_536del15

1 paper

NM_001372574.1

p.F180_K181ins6

c.538_542ins18

1 paper

NM_001372574.1

p.V178_Q179del2

c.532_536del6

1 paper

NM_001372574.1

p.D174_Q179del6

c.520_536del18

1 paper

NM_001372574.1

p.Q179L

c.536A>T

1 paper

NM_001372574.1

p.V178_Q179ins4

c.534_535ins12

1 paper

NM_001372574.1

p.F180_K181del1

c.539_541delTAA

2 papers

NM_001372574.1

p.K181ins1

c.542_543insACA

1 paper

NM_001372574.1

p.F180_K181del2

c.538_542del6

1 paper

NM_001372574.1

p.D182ins2

c.545_546ins6

1 paper

NM_001372574.1

p.D174_F175delFs

c.522_523delAG

1 paper

NM_001372574.1

p.D184N

c.550G>A