Varaico: Literature-Extracted Genetic Variants

Gene:AKAP10
Variant:p.S247C

AKAP10

97 papers

RefSeq Summary

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations wi...

Pfam Domains

RGSaa 281–368UCSCRegulator of G protein signaling domain
RGSaa 380–504UCSCRegulator of G protein signaling domain

Gene Aliases

HGNC Name

A-kinase anchoring protein 10

HGNC Alias Symbols

D-AKAP2; PRKA10; MGC9414

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007202.4
p.S247C
c.740C>G
Surrounding Variants
6 papers
NM_007202.4
p.R249H
c.746G>A
1 paper
NM_007202.4
p.L238P
c.713T>C
2 papers
NM_007202.4
p.H258D
c.772C>G
1 paper
NM_007202.4
p.V273L
c.817G>T
1 paper
NM_007202.4
p.V273L
c.817G>C
1 paper
NM_007202.4
p.N277I
c.830A>T
1 paper
NM_007202.4
p.A280T
c.838G>A
1 paper
NM_007202.4
p.K284E
c.850A>G
1 paper
NM_007202.4
p.K289I
c.866A>T
1 paper
NM_007202.4
p.L290Q
c.869T>A
1 paper
NM_007202.4
p.S202C
c.605C>G
1 paper
NM_007202.4
p.T195I
c.584C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."