Varaico: Literature-Extracted Genetic Variants

Gene:AKAP17A

AKAP17A

41 papers

RefSeq Summary

This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alterna...

Pfam Domains

RBD_AKAP-17Aaa 80–298UCSCAKAP-17A-like, RNA-binding domain

Gene Aliases

HGNC Name

A-kinase anchoring protein 17A

HGNC Previous Symbols

CXYorf3; SFRS17A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
2 papers
NM_005088.3
p.L22F
c.66G>C
2 papers
NM_005088.3
p.L22F
c.66G>C
2 papers
NM_005088.3
p.L22F
c.66G>T
2 papers
NM_005088.3
p.L22F
c.66G>T
1 paper
NM_005088.3
p.E12Q
c.34G>C
1 paper
NM_005088.3
p.E12Q
c.34G>C
1 paper
NM_005088.3
p.E15K
c.43G>A
1 paper
NM_005088.3
p.E15K
c.43G>A
1 paper
NM_005088.3
p.A19A
c.57T>C
1 paper
NM_005088.3
p.A19A
c.57T>C
1 paper
NM_005088.3
p.Y23F
c.68A>T
1 paper
NM_005088.3
p.Y23F
c.68A>T
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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."