Varaico: Literature-Extracted Genetic Variants

Gene:TAPBPL
Variant:p.S288Y

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.S288Y
c.863C>A
Surrounding Variants
1 paper
NM_018009.5
p.T280I
c.839C>T
1 paper
NM_018009.5
p.L298F
c.892C>T
1 paper
NM_018009.5
p.Q301Q
c.903A>G
3 papers
NM_018009.5
p.G272S
c.814G>A
1 paper
NM_018009.5
p.L260L
c.778C>T
1 paper
NM_018009.5
p.Q259R
c.776A>G
1 paper
NM_018009.5
p.G246E
c.737G>A
1 paper
NM_018009.5
p.R228Q
c.683G>A
1 paper
NM_018009.5
p.Q192*
c.574C>T
1 paper
NM_018009.5
p.R307*
c.919C>T
2 papers
NM_018009.5
p.T334M
c.1001C>T
1 paper
NM_018009.5
p.Q346_S354del9
c.1036_1061del27
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