Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.H2394Q

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.H2394Q
c.7182C>A
Surrounding Variants
1 paper
NM_001620.3
p.H2394Q
c.7182C>G
1 paper
NM_001620.3
p.K2396R
c.7187A>G
1 paper
NM_001620.3
p.L2391_D2392ins1
c.7173_7174insCGA
1 paper
NM_001620.3
p.L2391_D2392insFs
c.7173_7174insCG
3 papers
NM_001620.3
p.L2391H
c.7172T>A
1 paper
NM_001620.3
p.P2389delFs
c.7166_7167delTG
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.M2388ins1
c.7163_7164insACG
1 paper
NM_001620.3
p.M2388insFs
c.7163_7164insAC
1 paper
NM_001620.3
p.A2383_S2387delFs
c.7148_7161del14
1 paper
NM_001620.3
p.S2387F
c.7160C>T
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