Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.P2444H

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.P2444H
c.7331C>A
Surrounding Variants
1 paper
NM_001620.3
p.G2438D
c.7313G>A
1 paper
NM_001620.3
p.G2431G
c.7293A>G
1 paper
NM_001620.3
p.N2461N
c.7383T>C
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.G2417R
c.7249G>C
1 paper
NM_001620.3
p.G2417R
c.7249G>A
1 paper
NM_001620.3
p.D2414N
c.7240G>A
1 paper
NM_001620.3
p.E2479Q
c.7435G>C
1 paper
NM_001620.3
p.G2480A
c.7439G>C
1 paper
NM_001620.3
p.I2489S
c.7466T>G
1 paper
NM_001620.3
p.L2482_I2489delFs
c.7445_7467del23
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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."