Varaico: Literature-Extracted Genetic Variants

Gene:AIP
Variant:p.Y248*

AIP

388 papers

RefSeq Summary

The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but u...

Pfam Domains

PPIase_AIPaa 1–97UCSCAH receptor-interacting protein, N-terminal FKBP-type PPIase
PPIase_AIPaa 13–156UCSCAH receptor-interacting protein, N-terminal FKBP-type PPIase

Gene Aliases

HGNC Name

AHR interacting HSP90 co-chaperone

HGNC Alias Symbols

XAP2; ARA9; FKBP16; FKBP37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003977.4
p.Y248*
c.744C>G
Surrounding Variants
1 paper
NM_003977.4
p.Y248*
c.744C>A
4 papers
NM_003977.4
p.Y248C
c.743A>G
1 paper
NM_003977.4
p.E249K
c.745G>A
1 paper
NM_003977.4
p.Y247*
c.741C>A
1 paper
NM_003977.4
p.V250insFs
c.748_749ins8
1 paper
NM_003977.4
p.V250L
c.748G>C
1 paper
NM_003977.4
p.Y247H
c.739T>C
1 paper
NM_003977.4
p.V250A
c.749T>C
2 papers
NM_003977.4
p.Y247D
c.739T>G
1 paper
NM_003977.4
p.V250insFs
c.749_750ins8
5 papers
NM_003977.4
p.Y248del1
c.742_743delTAC
3 papers
NM_003977.4
p.L251delFs
c.752delT
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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."