Varaico: Literature-Extracted Genetic Variants

Gene:TMEM216
Variant:p.F25delFs

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.F25delFs
c.74delT
Surrounding Variants
2 papers
NM_001173990.3
p.L23L
c.69G>A
1 paper
NM_001173990.3
p.L23L
c.69G>C
1 paper
NM_001173990.3
p.L23L
c.69G>T
1 paper
NM_001173990.3
p.L20L
c.60G>A
1 paper
NM_001173990.3
p.N31D
c.91A>G
1 paper
NM_001173990.3
p.T18A
c.52A>G
1 paper
NM_001173990.3
p.S17insFs
c.50_51ins5
1 paper
NM_001173990.3
p.A32A
c.96T>C
1 paper
NM_001173990.3
p.L15L
c.45G>A
3 papers
NM_001173990.3
p.G12V
c.35G>T
1 paper
NM_001173990.3
p.G12Splc
c.35-2A>G
1 paper
NM_001173990.3
p.E38G
c.113A>G
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