Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.I5523M

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.I5523M
c.16569C>G
Surrounding Variants
2 papers
NM_001620.3
p.V5509M
c.16525G>A
1 paper
NM_001620.3
p.G5496V
c.16487G>T
2 papers
NM_001620.3
p.G5496E
c.16487G>A
4 papers
NM_001620.3
p.I5483T
c.16448T>C
1 paper
NM_001620.3
p.G5477R
c.16429G>C
1 paper
NM_001620.3
p.G5477R
c.16429G>A
2 papers
NM_001620.3
p.G5575delins
c.16725delinsC
1 paper
NM_001620.3
p.A5578V
c.16733C>T
2 papers
NM_001620.3
p.L5583insFs
c.16747dupC
1 paper
NM_001620.3
p.L5583fs
c.16747_16748fs
1 paper
NM_001620.3
p.P5459L
c.16376C>T
1 paper
NM_001620.3
p.E5457Q
c.16369G>C
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."