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.F412L

c.1234T>C

Surrounding Variants

1 paper

NM_003886.3

p.F412L

c.1236C>G

1 paper

NM_003886.3

p.F412L

c.1236C>A

1 paper

NM_003886.3

p.F412delFs

c.1235delA

1 paper

NM_003886.3

p.V404F

c.1210G>T

1 paper

NM_003886.3

p.F403L

c.1209T>A

1 paper

NM_003886.3

p.D402G

c.1205A>G

5 papers

NM_003886.3

p.R429C

c.1285C>T

4 papers

NM_003886.3

p.R429H

c.1286G>A

1 paper

NM_003886.3

p.H391H

c.1173T>C

1 paper

NM_003886.3

p.I378_V379del2

c.1132_1136del6

1 paper

NM_003886.3

p.S447A

c.1339T>G

1 paper

NM_003886.3

p.V370L

c.1108G>T