Varaico: Literature-Extracted Genetic Variants

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.T165_S167del3

c.493_500del9

Surrounding Variants

1 paper

NM_007202.4

p.E157Q

c.469G>C

1 paper

NM_007202.4

p.L182P

c.545T>C

1 paper

NM_007202.4

p.E144*

c.430G>T

1 paper

NM_007202.4

p.T195I

c.584C>T

1 paper

NM_007202.4

p.S202C

c.605C>G

2 papers

NM_007202.4

p.L130W

c.389T>G

1 paper

NM_007202.4

p.L238P

c.713T>C

1 paper

NM_007202.4

p.S247C

c.740C>G

6 papers

NM_007202.4

p.R249H

c.746G>A

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