Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.E200K

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.E200K
c.598G>A
Surrounding Variants
1 paper
NM_004274.5
p.Y215N
c.643T>A
1 paper
NM_004274.5
p.L227V
c.679C>G
1 paper
NM_004274.5
p.P232L
c.695C>T
1 paper
NM_004274.5
p.G239W
c.715G>T
1 paper
NM_004274.5
p.L240P
c.719T>C
1 paper
NM_004274.5
p.G241V
c.722G>T
1 paper
NM_004274.5
p.K251T
c.752A>C
1 paper
NM_004274.5
p.F265L
c.793T>C
1 paper
NM_004274.5
p.F265L
c.795T>A
1 paper
NM_004274.5
p.F265L
c.795T>G
1 paper
NM_004274.5
p.T276M
c.827C>T
1 paper
NM_004274.5
p.S281insFs
c.842dupC
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