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.Y187S

c.560A>C

Surrounding Variants

1 paper

NM_001372574.1

p.S186C

c.556A>T

7 papers

NM_001372574.1

p.A188_K189del1

c.563_565delTTG

1 paper

NM_001372574.1

p.D184ins4

c.551_552ins12

8 papers

NM_001372574.1

p.A188_K189del2

c.562_566del6

1 paper

NM_001372574.1

p.Y187_K189del3

c.559_566del9

1 paper

NM_001372574.1

p.D184N

c.550G>A

2 papers

NM_001372574.1

p.Q179_M183del0

c.537_548del12

1 paper

NM_001372574.1

p.Q179_M183del5

c.535_548del15

1 paper

NM_001372574.1

p.D182ins2

c.545_546ins6

1 paper

NM_001372574.1

p.F180_K181del2

c.538_542del6

2 papers

NM_001372574.1

p.K181ins1

c.542_543insACA

1 paper

NM_001372574.1

p.F180_K181del1

c.539_541delTAA