Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.S5386S

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.S5386S
c.16158C>T
Surrounding Variants
1 paper
NM_001620.3
p.V5387I
c.16159G>A
2 papers
NM_001620.3
p.A5389T
c.16165G>A
1 paper
NM_001620.3
p.P5383delFs
c.16148delG
5 papers
NM_001620.3
p.P5390T
c.16168C>A
1 paper
NM_001620.3
p.I5380M
c.16140C>G
1 paper
NM_001620.3
p.S5400R
c.16198A>C
1 paper
NM_001620.3
p.S5400R
c.16200C>G
1 paper
NM_001620.3
p.S5400R
c.16200C>A
1 paper
NM_001620.3
p.P5404fs
c.16210_16211fs
1 paper
NM_001620.3
p.P5404delFs
c.16212delG
1 paper
NM_001620.3
p.G5367G
c.16101A>G
1 paper
NM_001620.3
p.P5409S
c.16225C>T
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