Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K3090fs

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.K3090fs
c.9268_9269fs
Surrounding Variants
1 paper
NM_001620.3
p.I3091F
c.9271A>T
1 paper
NM_001620.3
p.P3089_K3090insFs
c.9267_9268insC
1 paper
NM_001620.3
p.M3084I
c.9252G>T
1 paper
NM_001620.3
p.M3084I
c.9252G>C
1 paper
NM_001620.3
p.M3084I
c.9252G>A
1 paper
NM_001620.3
p.M3084V
c.9250A>G
1 paper
NM_001620.3
p.G3102V
c.9305G>T
1 paper
NM_001620.3
p.V3111M
c.9331G>A
1 paper
NM_001620.3
p.E3068K
c.9202G>A
1 paper
NM_001620.3
p.L3113L
c.9339G>A
1 paper
NM_001620.3
p.K3115Q
c.9343A>C
1 paper
NM_001620.3
p.P3063A
c.9187C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."