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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM204

Variant:p.A131T

TMEM204

19 papers

RefSeq Summary

C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008].

Gene Aliases

HGNC Name

transmembrane protein 204

HGNC Previous Symbol

C16orf30

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:1542031 G>A

NM_024600.6

p.A131T

c.391G>A

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

Surrounding Variants

3 papers

chr16:1542028 G>A

NM_024600.6

p.D130N

c.388G>A

Exome: 0.0% (AC=230, hom=1)Genome: 0.0% (AC=39, hom=0)6 overlapping SVs

1 paper

chr16:1542035 C>T

NM_024600.6

p.P132L

c.395C>T

Exome: 0.0% (AC=258, hom=0)Genome: 0.0% (AC=70, hom=0)6 overlapping SVs

1 paper

chr16:1541940 C>T

NM_024600.6

p.R100R

c.300C>T

Exome: 0.0% (AC=225, hom=2)Genome: 0.1% (AC=209, hom=0)6 overlapping SVs

1 paper

chr16:1541929 G>A

NM_024600.6

p.D97N

c.289G>A

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr16:1534540 C>T

NM_024600.6

p.R89*

c.265C>T

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

1 paper

chr16:1534301 C>T

NM_024600.6

p.A9V

c.26C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr16:1534291 C>T

NM_024600.6

p.L6F

c.16C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)6 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."