Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKAP6

Variant:p.V839A

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr14:32599456 T>C

NM_004274.5

p.V839A

c.2516T>C

Spectrin

Exome: 0.0% (AC=59, hom=0)Genome: 0.0% (AC=6, hom=0)6 overlapping SVs

Surrounding Variants

1 paper

chr14:32599435 A>G

NM_004274.5

p.H832R

c.2495A>G

Spectrin

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr14:32600647 G>A

NM_004274.5

p.R862Q

c.2585G>A

Spectrin

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=6, hom=0)6 overlapping SVs

2 papers

chr14:32600736 G>A

NM_004274.5

p.E892K

c.2674G>A

Exome: 0.8% (AC=12406, hom=75)Genome: 0.6% (AC=943, hom=8)6 overlapping SVs

1 paper

chr14:32600791 A>T

NM_004274.5

p.K910M

c.2729A>T

exact variant not in gnomAD6 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."