Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240
Variant:p.P170L

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
Selected Variant
16 papers
NM_001114748.2
p.P170L
c.509C>T
Surrounding Variants
3 papers
NM_001114748.2
p.R171W
c.511C>T
2 papers
NM_001114748.2
p.Y163Y
c.489C>T
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
4 papers
NM_001114748.2
p.E149K
c.445G>A
1 paper
NM_001114748.2
p.F148L
c.444C>G
1 paper
NM_001114748.2
p.F148L
c.444C>A
1 paper
NM_001114748.2
p.F148L
c.442T>C
1 paper
NM_001114748.2
p.L140P
c.419T>C
2 papers
NM_001114748.2
p.L140Q
c.419T>A
1 paper
NM_001114748.2
p.R138R
c.414G>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."