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

Selected Variant

1 paper

NM_003886.3

p.S262_P263del2

c.784_788del6

Surrounding Variants

1 paper

NM_003886.3

p.E259K

c.775G>A

1 paper

NM_003886.3

p.A275S

c.823G>T

1 paper

NM_003886.3

p.E280K

c.838G>A

2 papers

NM_003886.3

p.R287H

c.860G>A

1 paper

NM_003886.3

p.K239insFs

c.715dupA

1 paper

NM_003886.3

p.E291A

c.872A>C

1 paper

NM_003886.3

p.H233R

c.698A>G

3 papers

NM_003886.3

p.G296D

c.887G>A

1 paper

NM_003886.3

p.Q298delFs

c.893_894delCT

1 paper

NM_003886.3

p.L227insFs

c.680dupT

1 paper

NM_003886.3

p.R223*

c.667C>T

1 paper

NM_003886.3

p.Y220C

c.659A>G