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

Selected Variant

1 paper

NM_001135995.2

p.S219F

c.656C>T

Surrounding Variants

1 paper

NM_001135995.2

p.D217N

c.649G>A

1 paper

NM_001135995.2

p.R231G

c.691A>G

1 paper

NM_001135995.2

p.V197I

c.589G>A

1 paper

NM_001135995.2

p.H246Q

c.738T>G

1 paper

NM_001135995.2

p.H246Q

c.738T>A

2 papers

NM_001135995.2

p.R248H

c.743G>A

1 paper

NM_001135995.2

p.P189Q

c.566C>A

1 paper

NM_001135995.2

p.V183V

c.549C>T

1 paper

NM_001135995.2

p.V183A

c.548T>C

1 paper

NM_001135995.2

p.G257S

c.769G>A

1 paper

NM_001135995.2

p.S263W

c.788C>G

1 paper

NM_001135995.2

p.S270*

c.809C>G