Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.K1412N

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.K1412N
c.4236A>T
Surrounding Variants
1 paper
NM_004274.5
p.K1412N
c.4236A>C
1 paper
NM_004274.5
p.K1410N
c.4230G>C
1 paper
NM_004274.5
p.K1410N
c.4230G>T
1 paper
NM_004274.5
p.D1415N
c.4243G>A
1 paper
NM_004274.5
p.P1423S
c.4267C>T
1 paper
NM_004274.5
p.P1400S
c.4198C>T
1 paper
NM_004274.5
p.S1428S
c.4284G>A
1 paper
NM_004274.5
p.E1396fs
c.4186_4187fs
1 paper
NM_004274.5
p.E1396delFs
c.4186delG
1 paper
NM_004274.5
p.T1375P
c.4123A>C
1 paper
NM_004274.5
p.T1372K
c.4115C>A
1 paper
NM_004274.5
p.E1369*
c.4105G>T
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