Varaico: Literature-Extracted Genetic Variants

Gene:AKAP17A
Variant:p.I184N

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
Selected Variant
1 paper
NM_005088.3
p.I184N
c.551T>A
Surrounding Variants
1 paper
NM_005088.3
p.E183E
c.549G>A
1 paper
NM_005088.3
p.D193H
c.577G>C
1 paper
NM_005088.3
p.Y218C
c.653A>G
1 paper
NM_005088.3
p.M240L
c.718A>C
1 paper
NM_005088.3
p.M240L
c.718A>T
1 paper
NM_005088.3
p.M240I
c.720G>A
1 paper
NM_005088.3
p.M240I
c.720G>C
1 paper
NM_005088.3
p.M240I
c.720G>T
1 paper
NM_005088.3
p.Y241F
c.722A>T
1 paper
NM_005088.3
p.R124H
c.371G>A
1 paper
NM_005088.3
p.F121S
c.362T>C
1 paper
NM_005088.3
p.K254E
c.760A>G
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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."