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.I500T

c.1499T>C

Surrounding Variants

1 paper

NM_003886.3

p.W508C

c.1524G>T

1 paper

NM_003886.3

p.W508C

c.1524G>C

1 paper

NM_003886.3

p.T491I

c.1472C>T

1 paper

NM_003886.3

p.C487R

c.1459T>C

1 paper

NM_003886.3

p.K517M

c.1550A>T

1 paper

NM_003886.3

p.K481fs

c.1441_1442fs

1 paper

NM_003886.3

p.G480fs

c.1438_1439fs

1 paper

NM_003886.3

p.D478fs

c.1432_1433fs

1 paper

NM_003886.3

p.D478G

c.1433A>G

1 paper

NM_003886.3

p.D478N

c.1432G>A

1 paper

NM_003886.3

p.E476fs

c.1426_1427fs

1 paper

NM_003886.3

p.T469A

c.1405A>G