Varaico: Literature-Extracted Genetic Variants

Gene:TAPBPL
Variant:p.E5K

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018009.5
p.E5K
c.13G>A
Surrounding Variants
1 paper
NM_018009.5
p.E20A
c.59A>C
1 paper
NM_018009.5
p.K22E
c.64A>G
1 paper
NM_018009.5
p.R31W
c.91C>T
2 papers
NM_018009.5
p.A42V
c.125C>T
1 paper
NM_018009.5
p.G49R
c.145G>A
1 paper
NM_018009.5
p.G49R
c.145G>C
1 paper
NM_018009.5
p.D72N
c.214G>A
1 paper
NM_018009.5
p.P105S
c.313C>T
1 paper
NM_018009.5
p.E108Q
c.322G>C
1 paper
NM_018009.5
p.A113V
c.338C>T
1 paper
NM_018009.5
p.D114H
c.340G>C
1 paper
NM_018009.5
p.S116_K118del0
c.346_354del9
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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."