Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.T1255_L1256del1

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
2 papers
NM_016248.4
p.T1255_L1256del1
c.3765_3767delATT
Surrounding Variants
1 paper
NM_016248.4
p.L1256*
c.3767T>A
1 paper
NM_016248.4
p.L1256*
c.3767T>G
1 paper
NM_016248.4
p.P1248T
c.3742C>A
1 paper
NM_016248.4
p.S1242L
c.3725C>T
1 paper
NM_016248.4
p.K1276E
c.3826A>G
1 paper
NM_016248.4
p.P1231H
c.3692C>A
1 paper
NM_016248.4
p.D1293N
c.3877G>A
1 paper
NM_016248.4
p.E1184Q
c.3550G>C
1 paper
NM_016248.4
p.E1339G
c.4016A>G
1 paper
NM_016248.4
p.K1165T
c.3494A>C
1 paper
NM_016248.4
p.G1358D
c.4073G>A
1 paper
NM_016248.4
p.M1395I
c.4185G>A
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