Varaico: Literature-Extracted Genetic Variants

Gene:AIRE
Variant:p.E17A

AIRE

744 papers

RefSeq Summary

This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity...

Pfam Domains

HSRaa 3–103UCSCHSR domain
SANDaa 201–248UCSCSAND domain
PHDaa 299–340UCSCPHD-finger

Gene Aliases

HGNC Name

autoimmune regulator

HGNC Previous Symbol

APECED

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000383.4
p.E17A
c.50A>C
Surrounding Variants
2 papers
NM_000383.4
p.E17G
c.50A>G
1 paper
NM_000383.4
p.E17V
c.50A>T
4 papers
NM_000383.4
p.E17K
c.49G>A
2 papers
NM_000383.4
p.E17D
c.51G>C
1 paper
NM_000383.4
p.E17Q
c.49G>C
2 papers
NM_000383.4
p.E17D
c.51G>T
1 paper
NM_000383.4
p.E17*
c.49G>T
1 paper
NM_000383.4
p.I18L
c.52A>C
1 paper
NM_000383.4
p.I18V
c.52A>G
1 paper
NM_000383.4
p.I18F
c.52A>T
1 paper
NM_000383.4
p.T16K
c.47C>A
4 papers
NM_000383.4
p.T16R
c.47C>G
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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."