Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.S2670*

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.S2670*
c.8009C>A
Surrounding Variants
1 paper
NM_001620.3
p.S2670*
c.8009C>G
1 paper
NM_001620.3
p.G2671G
c.8013A>T
1 paper
NM_001620.3
p.D2659A
c.7976A>C
1 paper
NM_001620.3
p.G2655V
c.7964G>T
1 paper
NM_001620.3
p.E2687A
c.8060A>C
1 paper
NM_001620.3
p.G2650C
c.7948G>T
3 papers
NM_001620.3
p.K2691R
c.8072A>G
1 paper
NM_001620.3
p.P2693fs
c.8077_8078fs
1 paper
NM_001620.3
p.K2694*
c.8080A>T
2 papers
NM_001620.3
p.P2693insFs
c.8079dupT
5 papers
NM_001620.3
p.F2695L
c.8083T>C
5 papers
NM_001620.3
p.F2695L
c.8085C>G
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