Varaico: Literature-Extracted Genetic Variants

AKAP4

91 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

RII_binding_1aa 215–233UCSCRII binding domain

AKAP_110aa 230–525UCSCA-kinase anchor protein 110 kDa (AKAP 110)

AKAP_110aa 518–740UCSCA-kinase anchor protein 110 kDa (AKAP 110)

AKAP_110aa 740–854UCSCA-kinase anchor protein 110 kDa (AKAP 110)

Gene Aliases

HGNC Name

A-kinase anchoring protein 4

HGNC Alias Symbols

p82; hAKAP82; AKAP82; Fsc1; HI; CT99

Papers

RefSeq ID

Protein change

DNA change

1–12 of 143 variants

5 papers

NM_003886.3

p.R429C

c.1285C>T

4 papers

NM_003886.3

p.R429H

c.1286G>A

3 papers

NM_003886.3

p.S64C

c.190A>T

3 papers

NM_003886.3

p.G296D

c.887G>A

2 papers

NM_003886.3

p.A150E

c.449C>A

2 papers

NM_003886.3

p.R287H

c.860G>A

2 papers

NM_003886.3

p.T560I

c.1679C>T

2 papers

NM_003886.3

p.G588E

c.1763G>A

1 paper

NM_003886.3

p.M1T

c.2T>C

1 paper

NM_003886.3

p.M1insFs

c.2dupT

1 paper

NM_003886.3

p.M1delFs

c.2delA

1 paper

NM_003886.3

p.M1insFs

c.3dupG