Varaico: Literature-Extracted Genetic Variants

Gene:XBP1
Variant:p.L105S

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.L105S
c.314T>C
Surrounding Variants
1 paper
NM_001079539.2
p.L105F
c.315A>T
1 paper
NM_001079539.2
p.L105F
c.315A>C
1 paper
NM_001079539.2
p.E107insFs
c.319_320insT
1 paper
NM_001079539.2
p.E107Q
c.319G>C
2 papers
NM_001079539.2
p.E107K
c.319G>A
1 paper
NM_001079539.2
p.V103E
c.308T>A
1 paper
NM_001079539.2
p.V102fs
c.304_305fs
1 paper
NM_001079539.2
p.V102L
c.304G>C
1 paper
NM_001079539.2
p.Q100H
c.300G>T
1 paper
NM_001079539.2
p.Q100H
c.300G>C
1 paper
NM_001079539.2
p.E99K
c.295G>A
1 paper
NM_001079539.2
p.S96R
c.288T>G
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