Varaico: Literature-Extracted Genetic Variants

Gene:TMEM114
Variant:p.F106L

TMEM114

21 papers

RefSeq Summary

This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with conge...

Pfam Domains

Claudin_2aa 2–127UCSCPMP-22/EMP/MP20/Claudin tight junction
Claudin_2aa 17–100UCSCPMP-22/EMP/MP20/Claudin tight junction

Gene Aliases

HGNC Name

transmembrane protein 114

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001146336.2
p.F106L
c.318T>G
Surrounding Variants
1 paper
NM_001146336.2
p.F106L
c.318T>A
1 paper
NM_001146336.2
p.F106L
c.316T>C
2 papers
NM_001146336.2
p.L109Q
c.326T>A
1 paper
NM_001146336.2
p.F143L
c.429C>G
2 papers
NM_001146336.2
p.A147V
c.440C>T
1 paper
NM_001146336.2
p.A147D
c.440C>A
1 paper
NM_001146336.2
p.F206L
c.616T>C
1 paper
NM_001146336.2
p.F206L
c.618C>G
1 paper
NM_001146336.2
p.F206L
c.618C>A
1 paper
NM_001146336.2
p.R217delFs
c.650delC
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