Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.N139S

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
3 papers
NM_004274.5
p.N139S
c.416A>G
Surrounding Variants
1 paper
NM_004274.5
p.V140L
c.418G>C
1 paper
NM_004274.5
p.V140L
c.418G>T
2 papers
NM_004274.5
p.H145H
c.435C>T
1 paper
NM_004274.5
p.H117Y
c.349C>T
1 paper
NM_004274.5
p.D116G
c.347A>G
1 paper
NM_004274.5
p.N173D
c.517A>G
1 paper
NM_004274.5
p.Q179E
c.535C>G
1 paper
NM_004274.5
p.T180M
c.539C>T
1 paper
NM_004274.5
p.A185V
c.554C>T
1 paper
NM_004274.5
p.E192_G193Splc
c.576+1G>T
1 paper
NM_004274.5
p.E192_G193Splc
c.576+184A>G
1 paper
NM_004274.5
p.E200K
c.598G>A
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