Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.E1456D

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.E1456D
c.4368A>C
Surrounding Variants
1 paper
NM_004274.5
p.E1456D
c.4368A>T
1 paper
NM_004274.5
p.S1471*
c.4412C>A
1 paper
NM_004274.5
p.S1471*
c.4412C>G
4 papers
NM_004274.5
p.M1482I
c.4446G>A
4 papers
NM_004274.5
p.M1482I
c.4446G>C
4 papers
NM_004274.5
p.M1482I
c.4446G>T
1 paper
NM_004274.5
p.S1428S
c.4284G>A
1 paper
NM_004274.5
p.P1423S
c.4267C>T
2 papers
NM_004274.5
p.A1492V
c.4475C>T
1 paper
NM_004274.5
p.E1495fs
c.4483_4484fs
1 paper
NM_004274.5
p.E1495delFs
c.4485delG
1 paper
NM_004274.5
p.D1415N
c.4243G>A
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