Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.Q245*

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.Q245*
c.733C>T
Surrounding Variants
2 papers
NM_001620.3
p.G254*
c.760G>T
1 paper
NM_001620.3
p.E235*
c.703G>T
1 paper
NM_001620.3
p.V258I
c.772G>A
1 paper
NM_001620.3
p.A228delFs
c.682delC
1 paper
NM_001620.3
p.A228T
c.682G>A
1 paper
NM_001620.3
p.R225P
c.674G>C
1 paper
NM_001620.3
p.P217L
c.650C>T
1 paper
NM_001620.3
p.S212L
c.635C>T
1 paper
NM_001620.3
p.S282F
c.845C>T
1 paper
NM_001620.3
p.E297A
c.890A>C
1 paper
NM_001620.3
p.S298insFs
c.892_893ins4
1 paper
NM_001620.3
p.E191*
c.571G>T
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