Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K2247T

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
2 papers
NM_001620.3
p.K2247T
c.6740A>C
Surrounding Variants
1 paper
NM_001620.3
p.L2241M
c.6721C>A
1 paper
NM_001620.3
p.D2233N
c.6697G>A
1 paper
NM_001620.3
p.V2225M
c.6673G>A
1 paper
NM_001620.3
p.D2273V
c.6818A>T
1 paper
NM_001620.3
p.V2215A
c.6644T>C
4 papers
NM_001620.3
p.F2300L
c.6898T>C
4 papers
NM_001620.3
p.F2300L
c.6900T>G
4 papers
NM_001620.3
p.F2300L
c.6900T>A
1 paper
NM_001620.3
p.N2192N
c.6576C>T
1 paper
NM_001620.3
p.N2192H
c.6574A>C
1 paper
NM_001620.3
p.N2190N
c.6570C>T
1 paper
NM_001620.3
p.N2190D
c.6568A>G
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