Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.Y436F

AKAP8

77 papers

RefSeq Summary

This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recr...

Pfam Domains

AKAP95aa 415–546UCSCA-kinase anchoring protein 95 (AKAP95)

Gene Aliases

HGNC Name

A-kinase anchoring protein 8

HGNC Alias Symbols

AKAP95; DKFZp586B1222

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005858.4
p.Y436F
c.1307A>T
Surrounding Variants
1 paper
NM_005858.4
p.L451L
c.1353G>A
1 paper
NM_005858.4
p.D462N
c.1384G>A
1 paper
NM_005858.4
p.K415delFs
c.1244_1245delTT
1 paper
NM_005858.4
p.K415fs
c.1243_1244fs
1 paper
NM_005858.4
p.C395S
c.1184G>C
1 paper
NM_005858.4
p.C395S
c.1183T>A
1 paper
NM_005858.4
p.C392S
c.1175G>C
1 paper
NM_005858.4
p.C392S
c.1174T>A
1 paper
NM_005858.4
p.C481S
c.1441T>A
1 paper
NM_005858.4
p.C481S
c.1442G>C
1 paper
NM_005858.4
p.C484S
c.1450T>A
1 paper
NM_005858.4
p.C484S
c.1451G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."