Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.R418H

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.R418H
c.1253G>A
Surrounding Variants
1 paper
NM_016248.4
p.S433C
c.1298C>G
1 paper
NM_016248.4
p.N397fs
c.1189_1190fs
1 paper
NM_016248.4
p.N397_K402delFs
c.1189_1204del16
1 paper
NM_016248.4
p.G392G
c.1176A>C
1 paper
NM_016248.4
p.K390K
c.1170A>G
1 paper
NM_016248.4
p.S448I
c.1343G>T
1 paper
NM_016248.4
p.R451*
c.1351C>T
1 paper
NM_016248.4
p.S453F
c.1358C>T
1 paper
NM_016248.4
p.N375D
c.1123A>G
1 paper
NM_016248.4
p.D363Y
c.1087G>T
1 paper
NM_016248.4
p.D360V
c.1079A>T
1 paper
NM_016248.4
p.D360Y
c.1078G>T
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