Varaico: Literature-Extracted Genetic Variants

AKAP7

47 papers

RefSeq Summary

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) an...

Pfam Domains

AKAP7_NLSaa 85–283UCSCAKAP7 2'5' RNA ligase-like domain

AKAP7_RIRII_bdgaa 289–345UCSCPKA-RI-RII subunit binding domain of A-kinase anchor protein

Gene Aliases

HGNC Name

A-kinase anchoring protein 7

HGNC Alias Symbols

AKAP18; AKAP15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_016377.4

p.Q112R

c.335A>G

Surrounding Variants

1 paper

NM_016377.4

p.E97_I98Splc

c.292-12A>G

1 paper

NM_016377.4

p.I143Splc

c.429-4C>T

1 paper

NM_016377.4

p.G144fs

c.430_431fs

2 papers

NM_016377.4

p.A147S

c.439G>T

1 paper

NM_016377.4

p.E150*

c.448G>T

1 paper

NM_016377.4

p.K162R

c.485A>G

1 paper

NM_016377.4

p.P167L

c.500C>T

1 paper

NM_016377.4

p.F168L

c.502T>C

1 paper

NM_016377.4

p.F168L

c.504T>A

1 paper

NM_016377.4

p.F168L

c.504T>G

1 paper

NM_016377.4

p.Q177*

c.529C>T

1 paper

NM_016377.4

p.Q84*

c.250C>T