Varaico: Literature-Extracted Genetic Variants

Gene:AKIP1
Variant:p.H40L

AKIP1

16 papers

RefSeq Summary

This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation...

Pfam Domains

AKIP1aa 16–210UCSCA-kinase-interacting protein 1

Gene Aliases

HGNC Name

A-kinase interacting protein 1

HGNC Previous Symbol

C11orf17

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020642.4
p.H40L
c.119A>T
Surrounding Variants
1 paper
NM_020642.4
p.L26P
c.77T>C
2 papers
NM_020642.4
p.R23K
c.68G>A
1 paper
NM_020642.4
p.R23T
c.68G>C
1 paper
NM_020642.4
p.H58R
c.173A>G
1 paper
NM_020642.4
p.P67R
c.200C>G
1 paper
NM_020642.4
p.A9T
c.25G>A
1 paper
NM_020642.4
p.E74E
c.222G>A
1 paper
NM_020642.4
p.N3T
c.8A>C
1 paper
NM_020642.4
p.P80fs
c.238_239fs
1 paper
NM_020642.4
p.T81S
c.242C>G
1 paper
NM_020642.4
p.A90V
c.269C>T
1 paper
NM_020642.4
p.Y104del1
c.310_311delTAT
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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."