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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM114

Variant:p.I35T

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr16:8589735 A>G

NM_001146336.2

p.I35T

c.104T>C

Claudin_2

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=11, hom=0)15 overlapping SVs

Surrounding Variants

3 papers

chr16:8589709 C>T

NM_001146336.2

p.G44S

c.130G>A

Claudin_2

Exome: 0.0% (AC=2, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr16:8589663 G>A

NM_001146336.2

p.P59L

c.176C>T

Claudin_2

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)15 overlapping SVs

2 papers

chr16:8589813 G>A

NM_001146336.2

p.A9V

c.26C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr16:8589834 C>G

NM_001146336.2

p.R2P

c.5G>C

exact variant not in gnomAD15 overlapping SVs

1 paper

chr16:8589834 C>T

NM_001146336.2

p.R2Q

c.5G>A

Exome: 0.3% (AC=794, hom=12)Genome: 0.4% (AC=560, hom=16)15 overlapping SVs

1 paper

chr16:8589837 A>T

NM_001146336.2

p.M1K

c.2T>A

exact variant not in gnomAD15 overlapping SVs

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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."