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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSPAN8

TSPAN8

48 papers

RefSeq Summary

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the pre...

Pfam Domains

Tetraspaninaa 8–233UCSCTetraspanin family

Gene Aliases

HGNC Name

tetraspanin 8

HGNC Previous Symbol

TM4SF3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 30 variants

8 papers

chr12:71139754 C>G

NM_004616.3

p.G73A

c.218G>C

Tetraspanin

Exome: 38.1% (AC=556859, hom=110187)Genome: 29.3% (AC=44601, hom=7969)31 overlapping SVs

5 papers

chr12:71129354 A>C

NM_004616.3

p.S213A

c.637T>G

Tetraspanin

Exome: 38.1% (AC=542199, hom=107226)Genome: 31.8% (AC=47922, hom=8469)32 overlapping SVs

3 papers

chr12:71144171 C>T

NM_004616.3

p.V35I

c.103G>A

Tetraspanin

Exome: 1.2% (AC=17709, hom=130)Genome: 1.0% (AC=1475, hom=11)32 overlapping SVs

2 papers

chr12:71139842 C>T

NM_004616.3

p.G44S

c.130G>A

Tetraspanin

Exome: 1.7% (AC=24042, hom=1320)Genome: 2.9% (AC=4432, hom=177)31 overlapping SVs

1 paper

chr12:71157661 G>C

NM_004616.3

p.A6A

c.18C>G

exact variant not in gnomAD31 overlapping SVs

1 paper

chr12:71157625 C>A

NM_004616.3

p.L18F

c.54G>T

Tetraspanin

Exome: 0.0% (AC=2, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr12:71157625 C>G

NM_004616.3

p.L18F

c.54G>C

Tetraspanin

Exome: 0.0% (AC=1, hom=0)Genome: n/a31 overlapping SVs

1 paper

chr12:71139832 T>G

NM_004616.3

p.D47A

c.140A>C

Tetraspanin

exact variant not in gnomAD31 overlapping SVs

1 paper

chr12:71139827 C>A

NM_004616.3

p.G49C

c.145G>T

Tetraspanin

Exome: 0.0% (AC=76, hom=0)Genome: 0.1% (AC=101, hom=0)31 overlapping SVs

1 paper

chr12:71139801 G>A

NM_004616.3

p.D57D

c.171C>T

Tetraspanin

Exome: 0.2% (AC=3311, hom=84)Genome: 0.3% (AC=400, hom=8)31 overlapping SVs

1 paper

chr12:71139777 G>T

NM_004616.3

p.I65I

c.195C>A

Tetraspanin

exact variant not in gnomAD31 overlapping SVs

1 paper

chr12:71139728 G>A

NM_004616.3

p.R82C

c.244C>T

Tetraspanin

Exome: 0.0% (AC=13, hom=0)Genome: n/a31 overlapping SVs

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