Varaico: Literature-Extracted Genetic Variants

Gene:TMEM240
Variant:p.R116C

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
5 papers
NM_001114748.2
p.R116C
c.346C>T
Surrounding Variants
1 paper
NM_001114748.2
p.V115A
c.344T>C
1 paper
NM_001114748.2
p.V115M
c.343G>A
1 paper
NM_001114748.2
p.A117V
c.350C>T
1 paper
NM_001114748.2
p.A114V
c.341C>T
1 paper
NM_001114748.2
p.G109S
c.325G>A
1 paper
NM_001114748.2
p.M107T
c.320T>C
1 paper
NM_001114748.2
p.W102*
c.305G>A
1 paper
NM_001114748.2
p.I100M
c.300C>G
1 paper
NM_001114748.2
p.D125Splc
c.374-5C>T
10 papers
NM_001114748.2
p.T80M
c.239C>T
1 paper
NM_001114748.2
p.D125N
c.373G>A
1 paper
NM_001114748.2
p.E75K
c.223G>A
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