Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK
Variant:p.K1868delFs

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.K1868delFs
c.5604delT
Surrounding Variants
4 papers
NM_001620.3
p.A1873V
c.5618C>T
1 paper
NM_001620.3
p.P1878L
c.5633C>T
1 paper
NM_001620.3
p.S1856fs
c.5566_5567fs
4 papers
NM_001620.3
p.A1852T
c.5554G>A
1 paper
NM_001620.3
p.K1851R
c.5552A>G
1 paper
NM_001620.3
p.D1895Y
c.5683G>T
1 paper
NM_001620.3
p.D1830E
c.5490T>G
1 paper
NM_001620.3
p.D1830E
c.5490T>A
1 paper
NM_001620.3
p.V1829I
c.5485G>A
1 paper
NM_001620.3
p.V1826L
c.5476G>T
1 paper
NM_001620.3
p.V1826L
c.5476G>C
2 papers
NM_001620.3
p.D1914E
c.5742C>G
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