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.S357F

c.1070C>T

Surrounding Variants

1 paper

NM_003886.3

p.S357insFs

c.1069_1070insAC

1 paper

NM_003886.3

p.S364S

c.1092T>G

1 paper

NM_003886.3

p.V370L

c.1108G>T

1 paper

NM_003886.3

p.V370L

c.1108G>C

1 paper

NM_003886.3

p.A341A

c.1023A>T

1 paper

NM_003886.3

p.V335_Y336del2

c.1003_1007del6

1 paper

NM_003886.3

p.I378_V379del2

c.1132_1136del6

1 paper

NM_003886.3

p.M334L

c.1000A>T

1 paper

NM_003886.3

p.M334L

c.1000A>C

1 paper

NM_003886.3

p.L333P

c.998T>C

1 paper

NM_003886.3

p.A326V

c.977C>T

1 paper

NM_003886.3

p.A326T

c.976G>A