Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.S68R

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
3 papers
NM_001079539.2
p.S68R
c.204C>G
Surrounding Variants
3 papers
NM_001079539.2
p.S68R
c.204C>A
3 papers
NM_001079539.2
p.S68R
c.202A>C
1 paper
NM_001079539.2
p.T65A
c.193A>G
1 paper
NM_001079539.2
p.L64L
c.192C>G
1 paper
NM_001079539.2
p.A73S
c.217G>T
2 papers
NM_001079539.2
p.A73T
c.217G>A
1 paper
NM_001079539.2
p.A73E
c.218C>A
1 paper
NM_001079539.2
p.Q62Q
c.186G>A
1 paper
NM_001079539.2
p.Q62L
c.185A>T
1 paper
NM_001079539.2
p.R61Q
c.182G>A
2 papers
NM_001079539.2
p.R76K
c.227G>A
1 paper
NM_001079539.2
p.K60R
c.179A>G
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