Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.G2417R

AHNAK

368 papers

RefSeq Summary

The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as b...

Gene Aliases

HGNC Name

AHNAK nucleoprotein

HGNC Alias Symbols

MGC5395; AHNAK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001620.3
p.G2417R
c.7249G>A
Surrounding Variants
1 paper
NM_001620.3
p.G2417R
c.7249G>C
1 paper
NM_001620.3
p.D2414N
c.7240G>A
1 paper
NM_001620.3
p.G2424R
c.7270G>C
1 paper
NM_001620.3
p.G2424R
c.7270G>A
1 paper
NM_001620.3
p.G2431G
c.7293A>G
1 paper
NM_001620.3
p.K2396R
c.7187A>G
1 paper
NM_001620.3
p.G2438D
c.7313G>A
1 paper
NM_001620.3
p.H2394Q
c.7182C>G
1 paper
NM_001620.3
p.H2394Q
c.7182C>A
1 paper
NM_001620.3
p.L2391_D2392ins1
c.7173_7174insCGA
1 paper
NM_001620.3
p.L2391_D2392insFs
c.7173_7174insCG
3 papers
NM_001620.3
p.L2391H
c.7172T>A
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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."