Varaico: Literature-Extracted Genetic Variants

Gene:PALM2AKAP2

PALM2AKAP2

60 papers

RefSeq Summary

This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with o...

Pfam Domains

Paralemminaa 15–163UCSCParalemmin

Gene Aliases

HGNC Name

PALM2 and AKAP2 fusion

HGNC Previous Symbol

PALM2-AKAP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
2 papers
NM_007203.5
p.R371R
c.1111A>C
2 papers
NM_007203.5
p.P421L
c.1262C>T
2 papers
NM_007203.5
p.F561S
c.1682T>C
2 papers
NM_007203.5
p.G705S
c.2113G>A
2 papers
NM_007203.5
p.G909E
c.2726G>A
2 papers
NM_007203.5
p.R1051H
c.3152G>A
1 paper
NM_007203.5
p.E9A
c.26A>C
1 paper
NM_007203.5
p.V45L
c.133G>T
1 paper
NM_007203.5
p.S70C
c.209C>G
1 paper
NM_007203.5
p.Q85K
c.253C>A
1 paper
NM_007203.5
p.S118F
c.353C>T
1 paper
NM_007203.5
p.T129del1
c.385_386delACG
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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."