Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.R76K

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.R76K
c.227G>A
Surrounding Variants
1 paper
NM_001079539.2
p.K77fs
c.229_230fs
1 paper
NM_001079539.2
p.K77R
c.230A>G
1 paper
NM_001079539.2
p.L78P
c.233T>C
1 paper
NM_001079539.2
p.R81R
c.243A>G
1 paper
NM_001079539.2
p.V82L
c.244G>T
1 paper
NM_001079539.2
p.V82L
c.244G>C
2 papers
NM_001079539.2
p.A83T
c.247G>A
1 paper
NM_001079539.2
p.A83E
c.248C>A
1 paper
NM_001079539.2
p.R90*
c.268C>T
1 paper
NM_001079539.2
p.A93V
c.278C>T
1 paper
NM_001079539.2
p.R94Q
c.281G>A
1 paper
NM_001079539.2
p.M95L
c.283A>T
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