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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM123

Variant:p.E53Splc

TMEM123

25 papers

RefSeq Summary

This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed...

Pfam Domains

MGC-24aa 92–201UCSCMulti-glycosylated core protein 24 (MGC-24), sialomucin

Gene Aliases

HGNC Name

transmembrane protein 123

HGNC Alias Symbols

PORIMIN; KCT3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:102448237 T>C

NM_052932.3

p.E53Splc

c.157+575A>G

Exome: 0.4% (AC=1344, hom=52)Genome: 3.4% (AC=5251, hom=338)25 overlapping SVs

Surrounding Variants

1 paper

chr11:102452554 C>G

NM_052932.3

p.G24R

c.70G>C

Exome: 0.0% (AC=79, hom=0)Genome: n/a24 overlapping SVs

1 paper

chr11:102452554 C>T

NM_052932.3

p.G24R

c.70G>A

exact variant not in gnomAD24 overlapping SVs

1 paper

chr11:102452592 G>A

NM_052932.3

p.A11V

c.32C>T

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=2, hom=0)24 overlapping SVs

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