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.P542L

c.1625C>T

Surrounding Variants

2 papers

NM_001372574.1

p.P542_S543insACA

c.1624_1628ins9

1 paper

NM_001372574.1

p.G539_T541del3

c.1615_1622del9

1 paper

NM_001372574.1

p.G544E

c.1631G>A

1 paper

NM_001372574.1

p.P545_V546ins6

c.1633_1637ins18

1 paper

NM_001372574.1

p.V546V

c.1638T>C

2 papers

NM_001372574.1

p.R534_N536del3

c.1600_1607del9

1 paper

NM_001372574.1

p.R522_N536del15

c.1564_1607del45

1 paper

NM_001372574.1

p.S537_A548del12

c.1609_1643del36

1 paper

NM_001372574.1

p.I538_S549del12

c.1612_1646del36

1 paper

NM_001372574.1

p.Q551_A552ins12

c.1651_1655ins36

1 paper

NM_001372574.1

p.G553V

c.1658G>T

13 papers

NM_001372574.1

p.P525L

c.1574C>T