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

1–12 of 37 variants

4 papers

NM_016377.4

p.K77delFs

c.229delA

3 papers

NM_016377.4

p.K79fs

c.235_236fs

3 papers

NM_016377.4

p.Q112R

c.335A>G

3 papers

NM_016377.4

p.E334K

c.1000G>A

2 papers

NM_016377.4

p.K69K

c.207G>A

2 papers

NM_016377.4

p.A147S

c.439G>T

2 papers

NM_016377.4

p.G207A

c.620G>C

2 papers

NM_016377.4

p.S215N

c.644G>A

1 paper

NM_016377.4

p.N12K

c.36T>A

1 paper

NM_016377.4

p.E26K

c.76G>A

1 paper

NM_016377.4

p.D48G

c.143A>G

1 paper

NM_016377.4

p.K69R

c.206A>G