Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.E2042Q

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.E2042Q
c.6124G>C
Surrounding Variants
1 paper
NM_004274.5
p.E2042*
c.6124G>T
1 paper
NM_004274.5
p.V2045I
c.6133G>A
1 paper
NM_004274.5
p.F2046S
c.6137T>C
5 papers
NM_004274.5
p.N2035D
c.6103A>G
1 paper
NM_004274.5
p.H2057Y
c.6169C>T
1 paper
NM_004274.5
p.A2067V
c.6200C>T
1 paper
NM_004274.5
p.G2013G
c.6039A>G
1 paper
NM_004274.5
p.E2078V
c.6233A>T
1 paper
NM_004274.5
p.S2004*
c.6011C>A
1 paper
NM_004274.5
p.S2004*
c.6011C>G
1 paper
NM_004274.5
p.H2097N
c.6289C>A
1 paper
NM_004274.5
p.Q2103L
c.6308A>T
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