Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.A5ins1

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
1 paper
NM_001079539.2
p.A5ins1
c.14_15insGGG
Surrounding Variants
1 paper
NM_001079539.2
p.V4_A5ins0
c.12_14dupGGC
1 paper
NM_001079539.2
p.V4A
c.11T>C
1 paper
NM_001079539.2
p.A6V
c.17C>T
1 paper
NM_001079539.2
p.A7T
c.19G>A
1 paper
NM_001079539.2
p.V2G
c.5T>G
1 paper
NM_001079539.2
p.P8P
c.24G>A
1 paper
NM_001079539.2
p.N9Y
c.25A>T
1 paper
NM_001079539.2
p.N9S
c.26A>G
1 paper
NM_001079539.2
p.M1L
c.1A>T
1 paper
NM_001079539.2
p.M1V
c.1A>G
1 paper
NM_001079539.2
p.M1L
c.1A>C
1 paper
NM_001079539.2
p.A11S
c.31G>T
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