Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.S47R

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.S47R
c.141C>A
Surrounding Variants
1 paper
NM_001079539.2
p.S47R
c.141C>G
1 paper
NM_001079539.2
p.S47R
c.139A>C
1 paper
NM_001079539.2
p.A46G
c.137C>G
1 paper
NM_001079539.2
p.A46S
c.136G>T
1 paper
NM_001079539.2
p.S52C
c.154A>T
1 paper
NM_001079539.2
p.S52R
c.154A>C
1 paper
NM_001079539.2
p.Q43fs
c.127_128fs
1 paper
NM_001079539.2
p.S52R
c.156C>G
1 paper
NM_001079539.2
p.S52R
c.156C>A
1 paper
NM_001079539.2
p.A42P
c.124G>C
1 paper
NM_001079539.2
p.P41Q
c.122C>A
1 paper
NM_001079539.2
p.V40V
c.120G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."