Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.C45R

AKAP11

107 papers

RefSeq Summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoe...

Gene Aliases

HGNC Name

A-kinase anchoring protein 11

HGNC Alias Symbols

KIAA0629; AKAP220; PRKA11; FLJ11304; DKFZp781I12161; PPP1R44

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016248.4
p.C45R
c.133T>C
Surrounding Variants
1 paper
NM_016248.4
p.D67Y
c.199G>T
1 paper
NM_016248.4
p.S78C
c.233C>G
1 paper
NM_016248.4
p.Q117*
c.349C>T
1 paper
NM_016248.4
p.P134P
c.402A>G
1 paper
NM_016248.4
p.L136V
c.406C>G
1 paper
NM_016248.4
p.I141T
c.422T>C
1 paper
NM_016248.4
p.Y154Y
c.462C>T
1 paper
NM_016248.4
p.D157D
c.471C>T
1 paper
NM_016248.4
p.L160S
c.479T>C
1 paper
NM_016248.4
p.A190T
c.568G>A
1 paper
NM_016248.4
p.T222M
c.665C>T
1 paper
NM_016248.4
p.I237V
c.709A>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."