Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K2382N

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.K2382N
c.7146A>T
Surrounding Variants
1 paper
NM_001620.3
p.K2382N
c.7146A>C
1 paper
NM_001620.3
p.A2383V
c.7148C>T
1 paper
NM_001620.3
p.F2381_K2382insFs
c.7143_7144ins10
1 paper
NM_001620.3
p.A2383fs
c.7147_7148fs
1 paper
NM_001620.3
p.S2387F
c.7160C>T
1 paper
NM_001620.3
p.A2383_S2387delFs
c.7148_7161del14
1 paper
NM_001620.3
p.M2388ins1
c.7163_7164insACG
1 paper
NM_001620.3
p.M2388insFs
c.7163_7164insAC
1 paper
NM_001620.3
p.P2389fs
c.7165_7166fs
1 paper
NM_001620.3
p.P2389fs
c.7165_7166fs
1 paper
NM_001620.3
p.P2389delFs
c.7166_7167delTG
3 papers
NM_001620.3
p.L2391H
c.7172T>A
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