Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.M1302I

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
2 papers
NM_004274.5
p.M1302I
c.3906G>A
Surrounding Variants
2 papers
NM_004274.5
p.M1302I
c.3906G>C
2 papers
NM_004274.5
p.M1302I
c.3906G>T
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.V1294L
c.3880G>C
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.A1279S
c.3835G>T
1 paper
NM_004274.5
p.G1260A
c.3779G>C
1 paper
NM_004274.5
p.E1257_Y1261del5
c.3769_3782del15
1 paper
NM_004274.5
p.M1356I
c.4068G>A
1 paper
NM_004274.5
p.M1356I
c.4068G>C
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