Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.N4527fs

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.N4527fs
c.13579_13580fs
Surrounding Variants
3 papers
NM_001620.3
p.N4527delFs
c.13579delT
1 paper
NM_001620.3
p.N4527fs
c.13579_13580fs
1 paper
NM_001620.3
p.I4533fs
c.13597_13598fs
1 paper
NM_001620.3
p.S4516N
c.13547G>A
1 paper
NM_001620.3
p.S4516G
c.13546A>G
1 paper
NM_001620.3
p.F4514L
c.13542C>G
1 paper
NM_001620.3
p.F4514L
c.13542C>A
1 paper
NM_001620.3
p.F4514L
c.13540T>C
1 paper
NM_001620.3
p.V4512A
c.13535T>C
1 paper
NM_001620.3
p.D4547N
c.13639G>A
1 paper
NM_001620.3
p.G4504G
c.13512T>C
1 paper
NM_001620.3
p.P4551L
c.13652C>T
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