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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGSF23

IGSF23

7 papers

RefSeq Summary

This gene encodes a protein that has one immunoglobulin (Ig) domain and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as...

Gene Aliases

HGNC Name

immunoglobulin superfamily member 23

HGNC Previous Name

immunoglobulin superfamily, member 23

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr19:44613658 C>T

NM_001205280.2

p.P5S

c.13C>T

Exome: 0.0% (AC=10, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:44623876 C>T

NM_001205280.2

p.R99*

c.295C>T

Exome: 0.0% (AC=86, hom=1)Genome: 0.0% (AC=12, hom=0)9 overlapping SVs

1 paper

chr19:44627438 C>T

NM_001205280.2

p.T137I

c.410C>T

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=3, hom=0)9 overlapping SVs

1 paper

chr19:44627527 G>A

NM_001205280.2

p.G167R

c.499G>A

Exome: 0.0% (AC=62, hom=0)Genome: 0.0% (AC=8, hom=0)9 overlapping SVs

1 paper

chr19:44627527 G>C

NM_001205280.2

p.G167R

c.499G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

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