Varaico: Literature-Extracted Genetic Variants

AKAP13

498 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 holoen...

Pfam Domains

PH_16aa 837–954UCSCPH domain

RII_binding_1aa 1246–1264UCSCRII binding domain

RhoGEFaa 1998–2189UCSCRhoGEF domain

PHaa 2215–2333UCSCPH domain

Gene Aliases

HGNC Name

A-kinase anchoring protein 13

HGNC Previous Symbol

LBC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_007200.5

p.P1064delFs

c.3191delC

Surrounding Variants

1 paper

NM_007200.5

p.S1063delFs

c.3188_3189delCT

4 papers

NM_007200.5

p.P1062A

c.3184C>G

1 paper

NM_007200.5

p.S1074F

c.3221C>T

2 papers

NM_007200.5

p.C1081_V1083del3

c.3241_3248del9

1 paper

NM_007200.5

p.S1084_G1085insC

c.3250_3254ins3

4 papers

NM_007200.5

p.D1086N

c.3256G>A

1 paper

NM_007200.5

p.S1040S

c.3120C>T

1 paper

NM_007200.5

p.G1099R

c.3295G>C

1 paper

NM_007200.5

p.G1099D

c.3296G>A

3 papers

NM_007200.5

p.E1106G

c.3317A>G

1 paper

NM_007200.5

p.E1106D

c.3318G>C

1 paper

NM_007200.5

p.E1106D

c.3318G>T