Varaico: Literature-Extracted Genetic Variants

Gene:TAPBP
Variant:p.A304S

TAPBP

143 papers

RefSeq Summary

This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen p...

Pfam Domains

C1-setaa 294–389UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

TAP binding protein

HGNC Alias Symbols

TAPA; TPN; TPSN; NGS17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003190.5
p.A304S
c.910G>T
Surrounding Variants
1 paper
NM_003190.5
p.A304G
c.911C>G
1 paper
NM_003190.5
p.A299_T300del2
c.895_899del6
1 paper
NM_003190.5
p.P292L
c.875C>T
1 paper
NM_003190.5
p.P292S
c.874C>T
1 paper
NM_003190.5
p.V328M
c.982G>A
1 paper
NM_003190.5
p.P336S
c.1006C>T
1 paper
NM_003190.5
p.A343V
c.1028C>T
1 paper
NM_003190.5
p.R347M
c.1040G>T
1 paper
NM_003190.5
p.R347K
c.1040G>A
1 paper
NM_003190.5
p.S350L
c.1049C>T
1 paper
NM_003190.5
p.L352insFs
c.1054dupC
1 paper
NM_003190.5
p.L362V
c.1084C>G
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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."