Varaico: Literature-Extracted Genetic Variants

ATXN3L

38 papers

RefSeq Summary

This intronless gene may be a pseudogene (PMID:11450850). This gene is similar to the multi-exon gene which encodes ataxin 3 and contains a coding region which could encode a protein similar to ataxin...

Pfam Domains

Josephinaa 9–166UCSCJosephin

UIMaa 224–240UCSCUbiquitin interaction motif

SUIM_assocaa 261–324UCSCUnstructured region C-term to UIM in Ataxin3

Gene Aliases

HGNC Name

ataxin 3 like

HGNC Alias Symbol

MJDL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 31 variants

4 papers

NM_001135995.2

p.G332D

c.995G>A

3 papers

NM_001135995.2

p.E26*

c.76G>T

2 papers

NM_001135995.2

p.R248H

c.743G>A

1 paper

NM_001135995.2

p.D2H

c.4G>C

1 paper

NM_001135995.2

p.G25R

c.73G>C

1 paper

NM_001135995.2

p.G25R

c.73G>A

1 paper

NM_001135995.2

p.G25E

c.74G>A

1 paper

NM_001135995.2

p.S55G

c.163A>G

1 paper

NM_001135995.2

p.Q78*

c.232C>T

1 paper

NM_001135995.2

p.L89*

c.266T>G

1 paper

NM_001135995.2

p.L89*

c.266T>A

1 paper

NM_001135995.2

p.I113T

c.338T>C