Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.S4485P

AHNAK2

380 papers

RefSeq Summary

This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-ter...

Gene Aliases

HGNC Name

AHNAK nucleoprotein 2

HGNC Previous Symbol

C14orf78

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138420.4
p.S4485P
c.13453T>C
Surrounding Variants
1 paper
NM_138420.4
p.P4478L
c.13433C>T
1 paper
NM_138420.4
p.G4474R
c.13420G>C
1 paper
NM_138420.4
p.G4474R
c.13420G>A
1 paper
NM_138420.4
p.K4467E
c.13399A>G
1 paper
NM_138420.4
p.T4509I
c.13526C>T
2 papers
NM_138420.4
p.V4456_T4457insG
c.13366_13370ins3
1 paper
NM_138420.4
p.V4456M
c.13366G>A
1 paper
NM_138420.4
p.R4444W
c.13330C>T
1 paper
NM_138420.4
p.T4443A
c.13327A>G
1 paper
NM_138420.4
p.G4534D
c.13601G>A
2 papers
NM_138420.4
p.M4536L
c.13606A>T
2 papers
NM_138420.4
p.M4536L
c.13606A>C
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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."