Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.S1653R

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.S1653R
c.4957A>C
Surrounding Variants
1 paper
NM_004274.5
p.R1652Q
c.4955G>A
3 papers
NM_004274.5
p.S1653R
c.4959T>A
3 papers
NM_004274.5
p.S1653R
c.4959T>G
1 paper
NM_004274.5
p.S1646T
c.4936T>A
1 paper
NM_004274.5
p.S1662T
c.4985G>C
1 paper
NM_004274.5
p.S1667F
c.5000C>T
1 paper
NM_004274.5
p.R1638C
c.4912C>T
1 paper
NM_004274.5
p.Q1671*
c.5011C>T
2 papers
NM_004274.5
p.D1695D
c.5085C>T
3 papers
NM_004274.5
p.E1702Q
c.5104G>C
1 paper
NM_004274.5
p.W1599*
c.4797G>A
1 paper
NM_004274.5
p.W1599*
c.4796G>A
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