Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.D4301fs

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.D4301fs
c.12901_12902fs
Surrounding Variants
1 paper
NM_001620.3
p.I4300T
c.12899T>C
1 paper
NM_001620.3
p.D4304fs
c.12910_12911fs
2 papers
NM_001620.3
p.D4304G
c.12911A>G
1 paper
NM_001620.3
p.S4325I
c.12974G>T
1 paper
NM_001620.3
p.V4338I
c.13012G>A
1 paper
NM_001620.3
p.T4339fs
c.13015_13016fs
1 paper
NM_001620.3
p.L4340fs
c.13018_13019fs
1 paper
NM_001620.3
p.A4356V
c.13067C>T
1 paper
NM_001620.3
p.S4360N
c.13079G>A
1 paper
NM_001620.3
p.A4238V
c.12713C>T
1 paper
NM_001620.3
p.G4235S
c.12703G>A
1 paper
NM_001620.3
p.E4234K
c.12700G>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."