Varaico: Literature-Extracted Genetic Variants

Gene:TAPBPL
Variant:p.A169V

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.A169V
c.506C>T
Surrounding Variants
2 papers
NM_018009.5
p.T165A
c.493A>G
1 paper
NM_018009.5
p.V164L
c.490G>C
2 papers
NM_018009.5
p.G151R
c.451G>A
2 papers
NM_018009.5
p.G151R
c.451G>C
1 paper
NM_018009.5
p.S125C
c.374C>G
1 paper
NM_018009.5
p.S116_K118del0
c.346_354del9
1 paper
NM_018009.5
p.D114H
c.340G>C
1 paper
NM_018009.5
p.A113V
c.338C>T
1 paper
NM_018009.5
p.E108Q
c.322G>C
1 paper
NM_018009.5
p.P105S
c.313C>T
1 paper
NM_018009.5
p.D72N
c.214G>A
1 paper
NM_018009.5
p.G49R
c.145G>A
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