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.M1insFs

c.3dupG

Surrounding Variants

1 paper

NM_003886.3

p.M1insFs

c.2dupT

1 paper

NM_003886.3

p.M1delFs

c.2delA

1 paper

NM_003886.3

p.M1T

c.2T>C

1 paper

NM_003886.3

p.S19G

c.55A>G

1 paper

NM_003886.3

p.C24*

c.72C>A

1 paper

NM_003886.3

p.Q35K

c.103C>A

1 paper

NM_003886.3

p.S48delFs

c.144delG

1 paper

NM_003886.3

p.S48_T49del1

c.143_145delTGG

1 paper

NM_003886.3

p.K55*

c.163A>T

1 paper

NM_003886.3

p.K58_D59Splc

c.174+4C>T

1 paper

NM_003886.3

p.K58_D59Splc

c.174+5G>A

1 paper

NM_003886.3

p.A61A

c.183T>G