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.S192L

c.575C>T

Surrounding Variants

1 paper

NM_003886.3

p.P195delFs

c.585delT

1 paper

NM_003886.3

p.T201_Q202insFs

c.603_604insG

1 paper

NM_003886.3

p.A182S

c.544G>T

1 paper

NM_003886.3

p.I206delFs

c.616delT

1 paper

NM_003886.3

p.S207A

c.619T>G

1 paper

NM_003886.3

p.N174D

c.520A>G

1 paper

NM_003886.3

p.S218F

c.653C>T

1 paper

NM_003886.3

p.Y220C

c.659A>G

1 paper

NM_003886.3

p.R223*

c.667C>T

1 paper

NM_003886.3

p.L227insFs

c.680dupT

1 paper

NM_003886.3

p.S152P

c.454T>C

1 paper

NM_003886.3

p.S152T

c.454T>A