Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.H460Y

AKAP6

219 papers

RefSeq Summary

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoe...

Pfam Domains

Spectrinaa 779–884UCSCSpectrin repeat

Gene Aliases

HGNC Name

A-kinase anchoring protein 6

HGNC Alias Symbols

KIAA0311; mAKAP; AKAP100; PRKA6; ADAP6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004274.5
p.H460Y
c.1378C>T
Surrounding Variants
1 paper
NM_004274.5
p.Y445F
c.1334A>T
1 paper
NM_004274.5
p.S427L
c.1280C>T
1 paper
NM_004274.5
p.S493T
c.1477T>A
1 paper
NM_004274.5
p.P419_M421delFs
c.1257_1261del5
1 paper
NM_004274.5
p.P419fs
c.1255_1256fs
1 paper
NM_004274.5
p.P507L
c.1520C>T
1 paper
NM_004274.5
p.P507P
c.1521A>G
1 paper
NM_004274.5
p.R509*
c.1525C>T
3 papers
NM_004274.5
p.N408S
c.1223A>G
1 paper
NM_004274.5
p.R513P
c.1538G>C
1 paper
NM_004274.5
p.R513L
c.1538G>T
1 paper
NM_004274.5
p.G514E
c.1541G>A
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