Varaico: Literature-Extracted Genetic Variants

Gene:TAPBP
Variant:p.Y277C

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.Y277C
c.830A>G
Surrounding Variants
2 papers
NM_003190.5
p.H274P
c.821A>C
1 paper
NM_003190.5
p.T268I
c.803C>T
1 paper
NM_003190.5
p.Y289C
c.866A>G
1 paper
NM_003190.5
p.Y289*
c.867C>G
1 paper
NM_003190.5
p.Y289*
c.867C>A
1 paper
NM_003190.5
p.T260I
c.779C>T
7 papers
NM_003190.5
p.T260R
c.779C>G
1 paper
NM_003190.5
p.W250*
c.749G>A
1 paper
NM_003190.5
p.L217R
c.650T>G
1 paper
NM_003190.5
p.G212S
c.634G>A
1 paper
NM_003190.5
p.E205K
c.613G>A
1 paper
NM_003190.5
p.P197L
c.590C>T
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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."