Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.G4075_E4076delFs

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.G4075_E4076delFs
c.12225_12228del4
Surrounding Variants
1 paper
NM_001620.3
p.G4075A
c.12224G>C
1 paper
NM_001620.3
p.P4054L
c.12161C>T
2 papers
NM_001620.3
p.H4052Q
c.12156T>G
2 papers
NM_001620.3
p.H4052Q
c.12156T>A
1 paper
NM_001620.3
p.H4052delins
c.12155_12156delinsGA
1 paper
NM_001620.3
p.L4030I
c.12088C>A
1 paper
NM_001620.3
p.I4129T
c.12386T>C
2 papers
NM_001620.3
p.K4139R
c.12416A>G
1 paper
NM_001620.3
p.P4141L
c.12422C>T
1 paper
NM_001620.3
p.S4150F
c.12449C>T
1 paper
NM_001620.3
p.N3995T
c.11984A>C
1 paper
NM_001620.3
p.I4165V
c.12493A>G
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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."