Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K5137delFs

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.K5137delFs
c.15410delT
Surrounding Variants
1 paper
NM_001620.3
p.I5136delins
c.15406delinsT
1 paper
NM_001620.3
p.A5128V
c.15383C>T
1 paper
NM_001620.3
p.L5124F
c.15370C>T
1 paper
NM_001620.3
p.E5123*
c.15367G>T
1 paper
NM_001620.3
p.L5122L
c.15366G>T
1 paper
NM_001620.3
p.L5122R
c.15365T>G
1 paper
NM_001620.3
p.L5122P
c.15365T>C
1 paper
NM_001620.3
p.I5155fs
c.15463_15464fs
1 paper
NM_001620.3
p.I5155insFs
c.15463dupA
1 paper
NM_001620.3
p.A5119S
c.15355G>T
1 paper
NM_001620.3
p.E5116E
c.15348A>G
1 paper
NM_001620.3
p.K5098*
c.15292A>T
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