Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.Q57delFs

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.Q57delFs
c.169delG
Surrounding Variants
2 papers
NM_001079539.2
p.P56S
c.166C>T
1 paper
NM_001079539.2
p.L55fs
c.163_164fs
1 paper
NM_001079539.2
p.R59C
c.175C>T
1 paper
NM_001079539.2
p.R59G
c.175C>G
1 paper
NM_001079539.2
p.G54insFs
c.162dupG
1 paper
NM_001079539.2
p.K60*
c.178A>T
1 paper
NM_001079539.2
p.K60E
c.178A>G
1 paper
NM_001079539.2
p.K60R
c.179A>G
1 paper
NM_001079539.2
p.R61Q
c.182G>A
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.Q62L
c.185A>T
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