Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.D2347H

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.D2347H
c.7039G>C
Surrounding Variants
1 paper
NM_001620.3
p.E2345*
c.7033G>T
1 paper
NM_001620.3
p.G2350V
c.7049G>T
1 paper
NM_001620.3
p.E2338V
c.7013A>T
1 paper
NM_001620.3
p.M2357fs
c.7069_7070fs
2 papers
NM_001620.3
p.P2335L
c.7004C>T
1 paper
NM_001620.3
p.V2360G
c.7079T>G
1 paper
NM_001620.3
p.K2373*
c.7117A>T
1 paper
NM_001620.3
p.F2381_K2382insFs
c.7143_7144ins10
1 paper
NM_001620.3
p.K2382N
c.7146A>T
1 paper
NM_001620.3
p.K2382N
c.7146A>C
1 paper
NM_001620.3
p.A2383V
c.7148C>T
1 paper
NM_001620.3
p.A2383fs
c.7147_7148fs
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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."