Varaico: Literature-Extracted Genetic Variants

Gene:AKAP8
Variant:p.G601R

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
1 paper
NM_005858.4
p.G601R
c.1801G>C
Surrounding Variants
1 paper
NM_005858.4
p.G601R
c.1801G>A
2 papers
NM_005858.4
p.T610M
c.1829C>T
1 paper
NM_005858.4
p.V581L
c.1741G>T
1 paper
NM_005858.4
p.V581L
c.1741G>C
1 paper
NM_005858.4
p.E622K
c.1864G>A
1 paper
NM_005858.4
p.V577F
c.1729G>T
1 paper
NM_005858.4
p.A574V
c.1721C>T
1 paper
NM_005858.4
p.V629E
c.1886T>A
1 paper
NM_005858.4
p.P630P
c.1890C>T
1 paper
NM_005858.4
p.H635fs
c.1903_1904fs
1 paper
NM_005858.4
p.E636Q
c.1906G>C
1 paper
NM_005858.4
p.P640R
c.1919C>G
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