Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.S585P

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.S585P
c.1753T>C
Surrounding Variants
1 paper
NM_004274.5
p.S585F
c.1754C>T
1 paper
NM_004274.5
p.P594L
c.1781C>T
1 paper
NM_004274.5
p.S599S
c.1797A>C
1 paper
NM_004274.5
p.A564D
c.1691C>A
2 papers
NM_004274.5
p.N558D
c.1672A>G
1 paper
NM_004274.5
p.N617I
c.1850A>T
1 paper
NM_004274.5
p.Y625F
c.1874A>T
1 paper
NM_004274.5
p.E629*
c.1885G>T
4 papers
NM_004274.5
p.Q639K
c.1915C>A
1 paper
NM_004274.5
p.A528V
c.1583C>T
1 paper
NM_004274.5
p.T524_K525delFs
c.1572_1573delAA
1 paper
NM_004274.5
p.N523insFs
c.1568dupA
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