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.Q10H

c.30G>C

Surrounding Variants

1 paper

NM_001372574.1

p.Q13fs

c.37_38fs

2 papers

NM_001372574.1

p.Q14fs

c.40_41fs

1 paper

NM_001372574.1

p.Q14R

c.41A>G

3 papers

NM_001372574.1

p.Q13_Q14delFs

c.39_40delGC

3 papers

NM_001372574.1

p.Q14fs

c.40_41fs

1 paper

NM_001372574.1

p.Q13_Q14Fs

c.39_42delinsAAFs

4 papers

NM_001372574.1

p.Q14delFs

c.42delC

1 paper

NM_001372574.1

p.Q6R

c.17A>G

1 paper

NM_001372574.1

p.P5L

c.14C>T

1 paper

NM_001372574.1

p.Q16Q

c.48G>A

1 paper

NM_001372574.1

p.K4E

c.10A>G

1 paper

NM_001372574.1

p.K4ins1

c.10_11insTTT