Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.E1257_Y1261del5

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.E1257_Y1261del5
c.3769_3782del15
Surrounding Variants
1 paper
NM_004274.5
p.G1260A
c.3779G>C
1 paper
NM_004274.5
p.A1279S
c.3835G>T
1 paper
NM_004274.5
p.L1231F
c.3693G>C
1 paper
NM_004274.5
p.L1231F
c.3693G>T
1 paper
NM_004274.5
p.H1292Q
c.3876C>A
1 paper
NM_004274.5
p.H1292Q
c.3876C>G
1 paper
NM_004274.5
p.E1218Q
c.3652G>C
1 paper
NM_004274.5
p.V1294L
c.3880G>C
1 paper
NM_004274.5
p.A1216T
c.3646G>A
1 paper
NM_004274.5
p.E1298D
c.3894G>C
1 paper
NM_004274.5
p.E1298D
c.3894G>T
1 paper
NM_004274.5
p.G1211R
c.3631G>A
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