Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.E1877*

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.E1877*
c.5629G>T
Surrounding Variants
1 paper
NM_004274.5
p.R1876H
c.5627G>A
1 paper
NM_004274.5
p.H1870R
c.5609A>G
1 paper
NM_004274.5
p.K1907T
c.5720A>C
1 paper
NM_004274.5
p.P1839T
c.5515C>A
1 paper
NM_004274.5
p.H1923Y
c.5767C>T
1 paper
NM_004274.5
p.I1927V
c.5779A>G
1 paper
NM_004274.5
p.H1932Q
c.5796T>A
1 paper
NM_004274.5
p.H1932Q
c.5796T>G
1 paper
NM_004274.5
p.L1812L
c.5436G>A
1 paper
NM_004274.5
p.S1945*
c.5834C>A
1 paper
NM_004274.5
p.S1945*
c.5834C>G
1 paper
NM_004274.5
p.W1805L
c.5414G>T
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