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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TAPBPL

TAPBPL

38 papers

RefSeq Summary

Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen proce...

Pfam Domains

V-setaa 195–301UCSCImmunoglobulin V-set domain

C1-setaa 303–389UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

TAP binding protein like

HGNC Alias Symbols

TAPBP-R; FLJ10143; TAPBPR

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 35 variants

3 papers

chr12:6457654 G>A

NM_018009.5

p.G272S

c.814G>A

V-set

Exome: 0.1% (AC=1982, hom=31)Genome: 0.1% (AC=92, hom=2)5 overlapping SVs

2 papers

chr12:6453127 C>T

NM_018009.5

p.A42V

c.125C>T

Exome: 27.9% (AC=400519, hom=56905)Genome: 23.5% (AC=35675, hom=4562)5 overlapping SVs

2 papers

chr12:6453602 G>A

NM_018009.5

p.G151R

c.451G>A

Exome: 0.0% (AC=85, hom=2)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

2 papers

chr12:6453602 G>C

NM_018009.5

p.G151R

c.451G>C

Exome: 1.9% (AC=28051, hom=968)Genome: 2.7% (AC=4047, hom=122)7 overlapping SVs

2 papers

chr12:6453644 A>G

NM_018009.5

p.T165A

c.493A>G

Exome: 70.2% (AC=1025482, hom=361479)Genome: 66.6% (AC=101289, hom=34054)7 overlapping SVs

2 papers

chr12:6458741 C>T

NM_018009.5

p.T334M

c.1001C>T

C1-set

Exome: 19.7% (AC=288676, hom=30281)Genome: 14.1% (AC=21512, hom=1969)6 overlapping SVs

1 paper

chr12:6452261 G>A

NM_018009.5

p.E5K

c.13G>A

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=4, hom=0)5 overlapping SVs

1 paper

chr12:6452307 A>C

NM_018009.5

p.E20A

c.59A>C

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)5 overlapping SVs

1 paper

chr12:6452312 A>G

NM_018009.5

p.K22E

c.64A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr12:6453093 C>T

NM_018009.5

p.R31W

c.91C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)5 overlapping SVs

1 paper

chr12:6453147 G>A

NM_018009.5

p.G49R

c.145G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr12:6453147 G>C

NM_018009.5

p.G49R

c.145G>C

exact variant not in gnomAD5 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."