Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.P15L

XBP1

304 papers

RefSeq Summary

This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a...

Pfam Domains

bZIP_1aa 19–81UCSCbZIP transcription factor
bZIP_2aa 68–123UCSCBasic region leucine zipper

Gene Aliases

HGNC Name

X-box binding protein 1

HGNC Previous Symbol

XBP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001079539.2
p.P15L
c.44C>T
Surrounding Variants
1 paper
NM_001079539.2
p.P15R
c.44C>G
1 paper
NM_001079539.2
p.K16R
c.47A>G
1 paper
NM_001079539.2
p.T14_P15insGGG
c.40_44ins9
1 paper
NM_001079539.2
p.G13E
c.38G>A
1 paper
NM_001079539.2
p.L18M
c.52C>A
1 paper
NM_001079539.2
p.A11D
c.32C>A
1 paper
NM_001079539.2
p.A11S
c.31G>T
1 paper
NM_001079539.2
p.L20L
c.58C>T
1 paper
NM_001079539.2
p.L20P
c.59T>C
1 paper
NM_001079539.2
p.N9S
c.26A>G
1 paper
NM_001079539.2
p.N9Y
c.25A>T
1 paper
NM_001079539.2
p.P8P
c.24G>A
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