Varaico: Literature-Extracted Genetic Variants

Gene:TMEM216
Variant:p.V47A

TMEM216

97 papers

RefSeq Summary

This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorena...

Pfam Domains

Transmemb_17aa 22–128UCSCPredicted membrane protein

Gene Aliases

HGNC Name

transmembrane protein 216

HGNC Previous Symbols

CORS2; MKS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001173990.3
p.V47A
c.140T>C
Surrounding Variants
2 papers
NM_001173990.3
p.G46G
c.138T>G
1 paper
NM_001173990.3
p.L48P
c.143T>C
1 paper
NM_001173990.3
p.L63R
c.188T>G
1 paper
NM_001173990.3
p.L64delFs
c.191delT
1 paper
NM_001173990.3
p.V71L
c.211G>C
1 paper
NM_001173990.3
p.V71L
c.211G>T
1 paper
NM_001173990.3
p.V71A
c.212T>C
1 paper
NM_001330285.2
p.V10V
c.30A>G
1 paper
NM_001173990.3
p.I72I
c.216T>C
7 papers
NM_001173990.3
p.R73C
c.217C>T
8 papers
NM_001173990.3
p.R73H
c.218G>A
31 papers
NM_001173990.3
p.R73L
c.218G>T
NM_001330285.2
p.R12L
c.35G>T
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