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

1–12 of 60 variants

41 papers

NM_007202.4

p.I646V

c.1936A>G

6 papers

NM_007202.4

p.R249H

c.746G>A

2 papers

NM_007202.4

p.L130W

c.389T>G

2 papers

NM_007202.4

p.H258D

c.772C>G

2 papers

NM_007202.4

p.T374I

c.1121C>T

2 papers

NM_007202.4

p.G612Splc

c.1835-1G>A

1 paper

NM_007202.4

p.P6T

c.16C>A

1 paper

NM_007202.4

p.S7_S11insFs

c.19_32dup14

1 paper

NM_007202.4

p.P12A

c.34C>G

1 paper

NM_007202.4

p.R13S

c.37C>A

1 paper

NM_007202.4

p.L15delFs

c.43delG

1 paper

NM_007202.4

p.L15fs

c.43_44fs