Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.F2171Y

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
3 papers
NM_004274.5
p.F2171Y
c.6512T>A
Surrounding Variants
1 paper
NM_004274.5
p.P2169T
c.6505C>A
1 paper
NM_004274.5
p.P2175L
c.6524C>T
1 paper
NM_004274.5
p.S2179C
c.6536C>G
1 paper
NM_004274.5
p.A2180G
c.6539C>G
1 paper
NM_004274.5
p.E2184K
c.6550G>A
1 paper
NM_004274.5
p.E2153A
c.6458A>C
1 paper
NM_004274.5
p.S2195F
c.6584C>T
1 paper
NM_004274.5
p.S2202Y
c.6605C>A
1 paper
NM_004274.5
p.S2202S
c.6606T>C
1 paper
NM_004274.5
p.I2129T
c.6386T>C
2 papers
NM_004274.5
p.E2124G
c.6371A>G
1 paper
NM_004274.5
p.D2119G
c.6356A>G
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