Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.M1395I

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.M1395I
c.4185G>A
Surrounding Variants
1 paper
NM_016248.4
p.M1395I
c.4185G>C
1 paper
NM_016248.4
p.M1395I
c.4185G>T
1 paper
NM_016248.4
p.E1420K
c.4258G>A
1 paper
NM_016248.4
p.K1428E
c.4282A>G
1 paper
NM_016248.4
p.E1431G
c.4292A>G
1 paper
NM_016248.4
p.G1358D
c.4073G>A
1 paper
NM_016248.4
p.E1339G
c.4016A>G
1 paper
NM_016248.4
p.Q1453Q
c.4359A>G
1 paper
NM_016248.4
p.L1461L
c.4383G>C
1 paper
NM_016248.4
p.D1293N
c.3877G>A
1 paper
NM_016248.4
p.V1503I
c.4507G>A
1 paper
NM_016248.4
p.K1509delFs
c.4525_4526delAA
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