Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.V5290L

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.V5290L
c.15868G>C
Surrounding Variants
1 paper
NM_001620.3
p.V5290L
c.15868G>T
1 paper
NM_001620.3
p.S5289*
c.15866C>G
1 paper
NM_001620.3
p.S5289*
c.15866C>A
1 paper
NM_001620.3
p.M5294V
c.15880A>G
1 paper
NM_001620.3
p.S5293insFs
c.15879dupT
2 papers
NM_001620.3
p.G5282V
c.15845G>T
1 paper
NM_001620.3
p.L5273L
c.15819C>T
1 paper
NM_001620.3
p.S5310R
c.15928A>C
1 paper
NM_001620.3
p.S5310R
c.15930T>G
1 paper
NM_001620.3
p.S5310R
c.15930T>A
1 paper
NM_001620.3
p.G5313A
c.15938G>C
1 paper
NM_001620.3
p.Q5258*
c.15772C>T
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