Varaico: Literature-Extracted Genetic Variants

Gene:AKAP6
Variant:p.S1717L

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.S1717L
c.5150C>T
Surrounding Variants
1 paper
NM_004274.5
p.S1717W
c.5150C>G
1 paper
NM_004274.5
p.P1712L
c.5135C>T
1 paper
NM_004274.5
p.H1707D
c.5119C>G
1 paper
NM_004274.5
p.D1731N
c.5191G>A
3 papers
NM_004274.5
p.E1702Q
c.5104G>C
1 paper
NM_004274.5
p.V1734I
c.5200G>A
2 papers
NM_004274.5
p.D1695D
c.5085C>T
1 paper
NM_004274.5
p.A1745V
c.5234C>T
1 paper
NM_004274.5
p.Q1671*
c.5011C>T
1 paper
NM_004274.5
p.S1667F
c.5000C>T
1 paper
NM_004274.5
p.S1662T
c.4985G>C
1 paper
NM_004274.5
p.D1776N
c.5326G>A
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