Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.Y539F

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.Y539F
c.1616A>T
Surrounding Variants
1 paper
NM_005858.4
p.K541_G542Splc
c.1623+2T>G
1 paper
NM_005858.4
p.S525R
c.1575T>G
1 paper
NM_005858.4
p.E513Q
c.1537G>C
1 paper
NM_005858.4
p.L510F
c.1530G>T
1 paper
NM_005858.4
p.L510F
c.1530G>C
1 paper
NM_005858.4
p.N505D
c.1513A>G
1 paper
NM_005858.4
p.C484S
c.1451G>C
1 paper
NM_005858.4
p.C484S
c.1450T>A
1 paper
NM_005858.4
p.C481S
c.1442G>C
1 paper
NM_005858.4
p.C481S
c.1441T>A
1 paper
NM_005858.4
p.D462N
c.1384G>A
1 paper
NM_005858.4
p.L451L
c.1353G>A
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