Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.I704L

AKAP6

219 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...

Pfam Domains

Spectrinaa 779–884UCSCSpectrin repeat

Gene Aliases

HGNC Name

A-kinase anchoring protein 6

HGNC Alias Symbols

KIAA0311; mAKAP; AKAP100; PRKA6; ADAP6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004274.5
p.I704L
c.2110A>C
Surrounding Variants
1 paper
NM_004274.5
p.I704L
c.2110A>T
1 paper
NM_004274.5
p.G694V
c.2081G>T
1 paper
NM_004274.5
p.L717V
c.2149C>G
1 paper
NM_004274.5
p.G732S
c.2194G>A
1 paper
NM_004274.5
p.S746_E748delFs
c.2236_2242del7
1 paper
NM_004274.5
p.T662N
c.1985C>A
1 paper
NM_004274.5
p.N750I
c.2249A>T
1 paper
NM_004274.5
p.L654L
c.1960C>T
4 papers
NM_004274.5
p.Q639K
c.1915C>A
1 paper
NM_004274.5
p.Q769E
c.2305C>G
1 paper
NM_004274.5
p.Q769*
c.2305C>T
1 paper
NM_004274.5
p.D772E
c.2316C>A
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