Varaico: Literature-Extracted Genetic Variants

ATXN3

357 papers

RefSeq Summary

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the exp...

Pfam Domains

Josephinaa 9–78UCSCJosephin

Josephinaa 78–115UCSCJosephin

UIMaa 173–189UCSCUbiquitin interaction motif

UIMaa 193–209UCSCUbiquitin interaction motif

SUIM_assocaa 212–278UCSCUnstructured region C-term to UIM in Ataxin3

UIMaa 284–300UCSCUbiquitin interaction motif

Gene Aliases

HGNC Name

ataxin 3

HGNC Previous Symbols

SCA3; MJD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004993.6

p.Q305_G306delins

c.913_916delinsG

Surrounding Variants

1 paper

NM_004993.6

p.Q299_Q305ins2

c.895_915dup21

1 paper

NM_004993.6

p.Q304insFs

c.911_912ins28

7 papers

NM_004993.6

p.G306insFs

c.916_917insC

1 paper

NM_001164782.2

p.G23ins4

c.68_69ins12

1 paper

NM_004993.6

p.G306ins7

c.916_917ins21

1 paper

NM_004993.6

p.G306ins8

c.916_917ins24

1 paper

NM_004993.6

p.G306insFs

c.916_917ins19

7 papers

NM_004993.6

p.G306R

c.916G>C

1 paper

NM_004993.6

p.G306delins

c.916delinsCAGCAGCAGCAGCAGCAGC

7 papers

NM_004993.6

p.G306R

c.916G>A

9 papers

NM_004993.6

p.G306fs

c.916_917fs

5 papers

NM_004993.6

p.Q305_G306ins9

c.915_916ins27