Varaico: Literature-Extracted Genetic Variants

Gene:TMEM216

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
1–12 of 68 variants
31 papers
NM_001173990.3
p.R73L
c.218G>T
8 papers
NM_001173990.3
p.R73H
c.218G>A
7 papers
NM_001173990.3
p.R73C
c.217C>T
7 papers
NM_001173990.3
p.R85*
c.253C>T
6 papers
NM_001173990.3
p.G77A
c.230G>C
5 papers
NM_001173990.3
p.L114R
c.341T>G
4 papers
NM_001173990.3
p.F97I
c.289T>A
3 papers
NM_001173990.3
p.G12V
c.35G>T
3 papers
NM_001173990.3
p.G77A
c.230G>C
3 papers
NM_001173990.3
p.P88P
c.264G>A
3 papers
NM_001173990.3
p.L133*
c.398T>A
3 papers
NM_001173990.3
p.L133*
c.398T>G
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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."