Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240

TMEM240

52 papers

RefSeq Summary

This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014].

Pfam Domains

TMEM240aa 1–173UCSCTMEM240 family

Gene Aliases

HGNC Name

transmembrane protein 240

HGNC Previous Symbols

C1orf70; SCA21

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
16 papers
NM_001114748.2
p.P170L
c.509C>T
10 papers
NM_001114748.2
p.T80M
c.239C>T
9 papers
NM_001114748.2
p.G66R
c.196G>C
9 papers
NM_001114748.2
p.G66R
c.196G>A
5 papers
NM_001114748.2
p.R116C
c.346C>T
4 papers
NM_001114748.2
p.E149K
c.445G>A
4 papers
NM_001114748.2
p.Y163*
c.489C>G
4 papers
NM_001114748.2
p.Y163*
c.489C>A
3 papers
NM_001114748.2
p.A152T
c.454G>A
3 papers
NM_001114748.2
p.R171W
c.511C>T
2 papers
NM_001114748.2
p.L140Q
c.419T>A
2 papers
NM_001114748.2
p.Y163Y
c.489C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."