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

1–12 of 300 variants

13 papers

NM_001372574.1

p.P525L

c.1574C>T

8 papers

NM_001372574.1

p.S63delFs

c.188_189delCG

8 papers

NM_001372574.1

p.A188_K189del2

c.562_566del6

7 papers

NM_001372574.1

p.A188_K189del1

c.563_565delTTG

7 papers

NM_001372574.1

p.P563_P565del3

c.1687_1694del9

6 papers

NM_001372574.1

p.Q18L

c.53A>T

5 papers

NM_001372574.1

p.G41S

c.121G>A

4 papers

NM_001372574.1

p.Q14delFs

c.42delC

4 papers

NM_001372574.1

p.N87S

c.260A>G

4 papers

NM_001372574.1

p.C172S

c.515G>C

4 papers

NM_001372574.1

p.N248S

c.743A>G

4 papers

NM_001372574.1

p.R522G

c.1564A>G