Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.H394L

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.H394L
c.1181A>T
Surrounding Variants
1 paper
NM_001620.3
p.G393E
c.1178G>A
1 paper
NM_001620.3
p.S412I
c.1235G>T
1 paper
NM_001620.3
p.V415A
c.1244T>C
1 paper
NM_001620.3
p.L370L
c.1110G>T
1 paper
NM_001620.3
p.Q423Q
c.1269G>A
1 paper
NM_001620.3
p.S360C
c.1079C>G
1 paper
NM_001620.3
p.M434_K435del2
c.1300_1304del6
1 paper
NM_001620.3
p.P352S
c.1054C>T
1 paper
NM_001620.3
p.Q350*
c.1048C>T
1 paper
NM_001620.3
p.E448D
c.1344A>T
1 paper
NM_001620.3
p.L329L
c.987G>A
1 paper
NM_001620.3
p.A327P
c.979G>C
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