Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.F2172L

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
2 papers
NM_001620.3
p.F2172L
c.6516T>G
Surrounding Variants
2 papers
NM_001620.3
p.F2172L
c.6516T>A
2 papers
NM_001620.3
p.F2172L
c.6514T>C
1 paper
NM_001620.3
p.P2175H
c.6524C>A
3 papers
NM_001620.3
p.E2176D
c.6528G>T
3 papers
NM_001620.3
p.E2176D
c.6528G>C
1 paper
NM_001620.3
p.K2180R
c.6539A>G
1 paper
NM_001620.3
p.D2164V
c.6491A>T
1 paper
NM_001620.3
p.T2181A
c.6541A>G
1 paper
NM_001620.3
p.T2181fs
c.6541_6542fs
1 paper
NM_001620.3
p.N2190D
c.6568A>G
1 paper
NM_001620.3
p.N2190N
c.6570C>T
1 paper
NM_001620.3
p.N2192H
c.6574A>C
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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."