Varaico: Literature-Extracted Genetic Variants

Gene:AKAP11
Variant:p.E1799D

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.E1799D
c.5397A>T
Surrounding Variants
1 paper
NM_016248.4
p.E1799D
c.5397A>C
1 paper
NM_016248.4
p.E1771G
c.5312A>G
1 paper
NM_016248.4
p.S1763N
c.5288G>A
2 papers
NM_016248.4
p.N1759D
c.5275A>G
1 paper
NM_016248.4
p.L1843fs
c.5527_5528fs
1 paper
NM_016248.4
p.L1843delFs
c.5528_5529delTT
1 paper
NM_016248.4
p.L1855_L1856Splc
c.5565+4A>C
1 paper
NM_016248.4
p.V1874V
c.5622G>A
1 paper
NM_016248.4
p.W1896L
c.5687G>T
1 paper
NM_016248.4
p.L1755P
c.5264T>C
1 paper
NM_016248.4
p.Q1722H
c.5166G>C
1 paper
NM_016248.4
p.Q1722H
c.5166G>T
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