Varaico: Literature-Extracted Genetic Variants

Gene:TMEM216
Variant:p.L114R

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
5 papers
NM_001173990.3
p.L114R
c.341T>G
Surrounding Variants
2 papers
NM_001173990.3
p.R115C
c.343C>T
1 paper
NM_001173990.3
p.R115H
c.344G>A
1 paper
NM_001173990.3
p.I119_M120ins0
c.357_359dupCAT
2 papers
NM_001173990.3
p.M120V
c.358A>G
1 paper
NM_001173990.3
p.N121fs
c.361_362fs
1 paper
NM_001173990.3
p.Y106C
c.317A>G
1 paper
NM_001173990.3
p.Y105F
c.314A>T
1 paper
NM_001173990.3
p.C128_G129delFs
c.384_387del4
1 paper
NM_001173990.3
p.E131D
c.393G>C
1 paper
NM_001173990.3
p.E131D
c.393G>T
4 papers
NM_001173990.3
p.F97I
c.289T>A
3 papers
NM_001173990.3
p.L133*
c.398T>A
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