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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSPAN32

TSPAN32

28 papers

RefSeq Summary

This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumo...

Pfam Domains

Tetraspaninaa 10–222UCSCTetraspanin family

Gene Aliases

HGNC Name

tetraspanin 32

HGNC Previous Symbols

TSSC6; PHEMX

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 36 variants

3 papers

chr11:2304197 T>C

NM_139022.3

p.M91T

c.272T>C

Tetraspanin

Exome: 1.5% (AC=20783, hom=210)Genome: 0.9% (AC=1397, hom=16)8 overlapping SVs

3 papers

chr11:2314518 C>T

NM_139022.3

p.R164C

c.490C>T

Tetraspanin

Exome: 0.5% (AC=7673, hom=31)Genome: 0.3% (AC=487, hom=0)5 overlapping SVs

2 papers

chr11:2317911 GTC>G

NM_139022.3

p.G317_L318delFs

c.951_952delTC

Exome: 0.1% (AC=1113, hom=3)Genome: 0.1% (AC=111, hom=0)4 overlapping SVs

1 paper

chr11:2302166 G>A

NM_139022.3

p.R6Q

c.17G>A

Exome: 0.1% (AC=1335, hom=1)Genome: 0.1% (AC=131, hom=1)7 overlapping SVs

1 paper

chr11:2302911 G>A

NM_139022.3

p.R45H

c.134G>A

Tetraspanin

Exome: 0.0% (AC=139, hom=0)Genome: 0.0% (AC=22, hom=0)7 overlapping SVs

1 paper

chr11:2302916 G>A

NM_139022.3

p.A47T

c.139G>A

Tetraspanin

Exome: 0.0% (AC=2, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr11:2302947 T>G

NM_139022.3

p.V57G

c.170T>G

Tetraspanin

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr11:2304154 G>A

NM_139022.3

p.V77M

c.229G>A

Tetraspanin

Exome: 0.1% (AC=1035, hom=12)Genome: 0.7% (AC=990, hom=13)7 overlapping SVs

1 paper

chr11:2304181 G>A

NM_139022.3

p.E86K

c.256G>A

Tetraspanin

Exome: 0.0% (AC=66, hom=0)Genome: 0.0% (AC=4, hom=0)7 overlapping SVs

1 paper

chr11:2304191 G>C

NM_139022.3

p.G89A

c.266G>C

Tetraspanin

exact variant not in gnomAD7 overlapping SVs

1 paper

chr11:2308760 T>G

NM_139022.3

p.F102V

c.304T>G

Tetraspanin

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

1 paper

chr11:2308808 C>A

NM_139022.3

p.Q118K

c.352C>A

Tetraspanin

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 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."