Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K679K

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.K679K
c.2037A>G
Surrounding Variants
1 paper
NM_001620.3
p.L680F
c.2038C>T
1 paper
NM_001620.3
p.G678fs
c.2032_2033fs
1 paper
NM_001620.3
p.K681E
c.2041A>G
1 paper
NM_001620.3
p.N665T
c.1994A>C
1 paper
NM_001620.3
p.T694I
c.2081C>T
1 paper
NM_001620.3
p.V702L
c.2104G>T
2 papers
NM_001620.3
p.H705L
c.2114A>T
1 paper
NM_001620.3
p.G724fs
c.2170_2171fs
1 paper
NM_001620.3
p.E725Q
c.2173G>C
1 paper
NM_001620.3
p.E725A
c.2174A>C
1 paper
NM_001620.3
p.E725D
c.2175A>T
1 paper
NM_001620.3
p.E725D
c.2175A>C
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